PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing) Homo sapiens
Analyze
Symbol: PIKFYVE
Name: phosphoinositide kinase, FYVE-type zinc finger containing
RGD ID: 1313818
HGNC Page HGNC:23785
Description: Enables 1-phosphatidylinositol-3-phosphate 5-kinase activity and 1-phosphatidylinositol-5-kinase activity. Involved in several processes, including antigen processing and presentation of exogenous peptide antigen via MHC class II; neutrophil chemotaxis; and vesicle organization. Located in early endosome membrane; membrane raft; and phagocytic vesicle membrane. Implicated in Fleck corneal dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1-phosphatidylinositol 3-phosphate 5-kinase; 1-phosphatidylinositol-3-phosphate 5-kinase; CFD; epididymis luminal protein 37; FAB1; FLJ37746; HEL37; KIAA0981; MGC40423; phosphatidylinositol 3-phosphate 5-kinase; phosphatidylinositol 3-phosphate 5-kinase type III; phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III; phosphoinositide kinase, FYVE finger containing; PIP5K; PIP5K3; PIPkin-III; serine-protein kinase PIKFYVE; type III PIP kinase; ZFYVE29; zinc finger, FYVE domain containing 29
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382208,266,056 - 208,358,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2208,266,255 - 208,358,746 (+)EnsemblGRCh38hg38GRCh38
GRCh372209,130,979 - 209,223,470 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,839,236 - 208,931,720 (+)NCBINCBI36Build 36hg18NCBI36
Celera2202,898,915 - 202,991,410 (+)NCBICelera
Cytogenetic Map2q34NCBI
HuRef2200,978,970 - 201,070,591 (+)NCBIHuRef
CHM1_12209,136,843 - 209,229,320 (+)NCBICHM1_1
T2T-CHM13v2.02208,744,537 - 208,838,556 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10231032   PMID:11706043   PMID:11714711   PMID:12270933   PMID:12477932   PMID:12607114   PMID:14530284   PMID:14551253   PMID:14702039   PMID:15046600   PMID:15144186   PMID:15542851  
PMID:15592455   PMID:15902656   PMID:16147992   PMID:16448788   PMID:16801682   PMID:16954148   PMID:17081983   PMID:17146146   PMID:17207965   PMID:17556371   PMID:17570343   PMID:17909029  
PMID:18304842   PMID:18429927   PMID:18501703   PMID:18774718   PMID:18950639   PMID:19037259   PMID:19056739   PMID:19232516   PMID:19582903   PMID:19840946   PMID:19841139   PMID:19852935  
PMID:19910676   PMID:20041238   PMID:20193073   PMID:20379614   PMID:20945365   PMID:21832049   PMID:21873635   PMID:22065932   PMID:22621786   PMID:23154468   PMID:23178941   PMID:23188060  
PMID:23297396   PMID:23757022   PMID:24600036   PMID:24840251   PMID:25416956   PMID:25578879   PMID:25921289   PMID:26125944   PMID:26157143   PMID:26186194   PMID:26195816   PMID:26216398  
PMID:26396486   PMID:26405034   PMID:26472760   PMID:26885983   PMID:26934981   PMID:27438886   PMID:27545878   PMID:27623384   PMID:28431233   PMID:28514442   PMID:28637746   PMID:28779020  
PMID:29117863   PMID:29507755   PMID:29568061   PMID:29584722   PMID:29661845   PMID:29778605   PMID:29892012   PMID:30021884   PMID:30612035   PMID:31519766   PMID:31871319   PMID:32221306  
PMID:32583743   PMID:32764148   PMID:32877691   PMID:33467550   PMID:33961781   PMID:34079125   PMID:34107300   PMID:34369648   PMID:34373451   PMID:34382905   PMID:34432599   PMID:34672954  
PMID:34738088   PMID:35023829   PMID:35271311   PMID:35439318   PMID:35708031   PMID:35748872   PMID:36215168   PMID:37453227   PMID:37689310   PMID:37704626  


Genomics

Comparative Map Data
PIKFYVE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382208,266,056 - 208,358,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2208,266,255 - 208,358,746 (+)EnsemblGRCh38hg38GRCh38
GRCh372209,130,979 - 209,223,470 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,839,236 - 208,931,720 (+)NCBINCBI36Build 36hg18NCBI36
Celera2202,898,915 - 202,991,410 (+)NCBICelera
Cytogenetic Map2q34NCBI
HuRef2200,978,970 - 201,070,591 (+)NCBIHuRef
CHM1_12209,136,843 - 209,229,320 (+)NCBICHM1_1
T2T-CHM13v2.02208,744,537 - 208,838,556 (+)NCBIT2T-CHM13v2.0
Pikfyve
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39165,225,796 - 65,317,855 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl165,225,842 - 65,317,854 (+)EnsemblGRCm39 Ensembl
GRCm38165,186,640 - 65,278,696 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,186,683 - 65,278,695 (+)EnsemblGRCm38mm10GRCm38
MGSCv37165,233,259 - 65,325,270 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36165,120,978 - 65,208,034 (+)NCBIMGSCv36mm8
Celera165,677,339 - 65,769,254 (+)NCBICelera
Cytogenetic Map1C3NCBI
cM Map132.94NCBI
Pikfyve
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8974,057,488 - 74,151,610 (+)NCBIGRCr8
mRatBN7.2966,563,747 - 66,657,873 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl966,563,727 - 66,657,868 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0971,911,744 - 72,005,816 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl971,915,421 - 72,005,838 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0970,566,016 - 70,660,374 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4963,798,743 - 63,890,905 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera963,959,029 - 64,052,994 (+)NCBICelera
Cytogenetic Map9q32NCBI
Pikfyve
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554576,748,534 - 6,842,489 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554576,749,226 - 6,841,855 (-)NCBIChiLan1.0ChiLan1.0
PIKFYVE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213110,875,873 - 110,968,489 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B110,891,072 - 110,983,465 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B95,505,376 - 95,597,792 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B213,628,997 - 213,721,299 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B213,628,997 - 213,721,299 (+)Ensemblpanpan1.1panPan2
PIKFYVE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13716,537,095 - 16,620,427 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3716,541,562 - 16,619,554 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3717,419,766 - 17,503,074 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03716,472,780 - 16,556,108 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3716,472,913 - 16,554,451 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13716,416,782 - 16,500,119 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03716,390,154 - 16,473,467 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03716,399,401 - 16,482,715 (+)NCBIUU_Cfam_GSD_1.0
Pikfyve
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303164,903,831 - 164,987,854 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936950242,522 - 320,078 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936950242,071 - 323,204 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIKFYVE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15111,372,173 - 111,467,899 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115111,372,148 - 111,468,720 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215122,893,751 - 122,991,762 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIKFYVE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11094,051,096 - 94,144,968 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1094,056,923 - 94,145,268 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040105,226,813 - 105,319,971 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pikfyve
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247657,681,875 - 7,790,704 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247657,684,770 - 7,806,381 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIKFYVE
263 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs) deletion Fleck corneal dystrophy [RCV000034837] Chr2:208335329..208335332 [GRCh38]
Chr2:209200054..209200057 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg) single nucleotide variant Fleck corneal dystrophy [RCV000001766] Chr2:208326119 [GRCh38]
Chr2:209190843 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter) single nucleotide variant Fleck corneal dystrophy [RCV000001767] Chr2:208325773 [GRCh38]
Chr2:209190497 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.4021C>G (p.Leu1341Val) single nucleotide variant not provided [RCV003321161] Chr2:208333372 [GRCh38]
Chr2:209198096 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1 copy number loss See cases [RCV000052608] Chr2:208179265..209331482 [GRCh38]
Chr2:209043989..210196206 [GRCh37]
Chr2:208752234..209904451 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_015040.3(PIKFYVE):c.1370C>T (p.Ser457Phe) single nucleotide variant Malignant melanoma [RCV000065381] Chr2:208304220 [GRCh38]
Chr2:209168944 [GRCh37]
Chr2:208877189 [NCBI36]
Chr2:2q34		 not provided
NM_015040.3(PIKFYVE):c.5018T>A (p.Phe1673Tyr) single nucleotide variant Malignant melanoma [RCV000060472] Chr2:208342640 [GRCh38]
Chr2:209207364 [GRCh37]
Chr2:208915609 [NCBI36]
Chr2:2q34		 not provided
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro) single nucleotide variant Fleck corneal dystrophy [RCV000362470] Chr2:208271556 [GRCh38]
Chr2:209136280 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1 copy number loss See cases [RCV000137082] Chr2:207949648..208438066 [GRCh38]
Chr2:208814372..209302791 [GRCh37]
Chr2:208522617..209011036 [NCBI36]
Chr2:2q33.3-34		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 copy number loss See cases [RCV000139325] Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 copy number loss See cases [RCV000139629] Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
NM_015040.4(PIKFYVE):c.*1978T>C single nucleotide variant Fleck corneal dystrophy [RCV000264824] Chr2:208357283 [GRCh38]
Chr2:209222007 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*3329G>T single nucleotide variant Fleck corneal dystrophy [RCV000262057] Chr2:208358634 [GRCh38]
Chr2:209223358 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=) single nucleotide variant Fleck corneal dystrophy [RCV000259284]|not provided [RCV000916339] Chr2:208336135 [GRCh38]
Chr2:209200859 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=) single nucleotide variant Fleck corneal dystrophy [RCV000395304]|not provided [RCV002057644] Chr2:208326375 [GRCh38]
Chr2:209191099 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln) single nucleotide variant Fleck corneal dystrophy [RCV000396084]|not provided [RCV002521373] Chr2:208315312 [GRCh38]
Chr2:209180036 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=) single nucleotide variant Fleck corneal dystrophy [RCV000396210]|not provided [RCV002057641] Chr2:208320275 [GRCh38]
Chr2:209184999 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=) single nucleotide variant Fleck corneal dystrophy [RCV000263665]|not provided [RCV000910931] Chr2:208325529 [GRCh38]
Chr2:209190253 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2173C>T single nucleotide variant Fleck corneal dystrophy [RCV000263761] Chr2:208357478 [GRCh38]
Chr2:209222202 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=) single nucleotide variant Fleck corneal dystrophy [RCV000405428]|not provided [RCV000879056] Chr2:208314367 [GRCh38]
Chr2:209179091 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val) single nucleotide variant Fleck corneal dystrophy [RCV000295958]|not provided [RCV002521372] Chr2:208315215 [GRCh38]
Chr2:209179939 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val) single nucleotide variant Fleck corneal dystrophy [RCV000297361] Chr2:208350930 [GRCh38]
Chr2:209215654 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=) single nucleotide variant Fleck corneal dystrophy [RCV000283380]|not provided [RCV002523105] Chr2:208350847 [GRCh38]
Chr2:209215571 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=) single nucleotide variant Fleck corneal dystrophy [RCV000276699]|PIKFYVE-related condition [RCV003969960]|not provided [RCV002523102] Chr2:208325703 [GRCh38]
Chr2:209190427 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg) single nucleotide variant Fleck corneal dystrophy [RCV000277100]|not provided [RCV000950645] Chr2:208339519 [GRCh38]
Chr2:209204243 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=) single nucleotide variant Fleck corneal dystrophy [RCV000288994]|not provided [RCV002057646] Chr2:208347983 [GRCh38]
Chr2:209212707 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*518C>A single nucleotide variant Fleck corneal dystrophy [RCV000268778] Chr2:208355823 [GRCh38]
Chr2:209220547 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=) single nucleotide variant Fleck corneal dystrophy [RCV000379957]|not provided [RCV002057647] Chr2:208350046 [GRCh38]
Chr2:209214770 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His) single nucleotide variant Fleck corneal dystrophy [RCV000380983]|Inborn genetic diseases [RCV002521379] Chr2:208347971 [GRCh38]
Chr2:209212695 [GRCh37]
Chr2:2q34		 benign|likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn) single nucleotide variant Fleck corneal dystrophy [RCV000365792]|not provided [RCV002057640] Chr2:208320256 [GRCh38]
Chr2:209184980 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=) single nucleotide variant Fleck corneal dystrophy [RCV000385242]|not provided [RCV002523104] Chr2:208325925 [GRCh38]
Chr2:209190649 [GRCh37]
Chr2:2q34		 benign
NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del) deletion Fleck corneal dystrophy [RCV000208999]   pathogenic
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs) duplication Fleck corneal dystrophy [RCV000209630] Chr2:208325957..208325958 [GRCh38]
Chr2:209190681..209190682 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr) single nucleotide variant Fleck corneal dystrophy [RCV000306008] Chr2:208326322 [GRCh38]
Chr2:209191046 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1051-10G>T single nucleotide variant Fleck corneal dystrophy [RCV000318474] Chr2:208300927 [GRCh38]
Chr2:209165651 [GRCh37]
Chr2:2q34		 benign|uncertain significance
NM_015040.4(PIKFYVE):c.2191-15A>T single nucleotide variant Fleck corneal dystrophy [RCV000360080]|not provided [RCV002521375] Chr2:208324127 [GRCh38]
Chr2:209188851 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.-10+5G>A single nucleotide variant Fleck corneal dystrophy [RCV000326456] Chr2:208266420 [GRCh38]
Chr2:209131144 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.5028-8G>A single nucleotide variant Fleck corneal dystrophy [RCV000328743]|not provided [RCV002057645] Chr2:208345103 [GRCh38]
Chr2:209209827 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.173-11C>T single nucleotide variant Fleck corneal dystrophy [RCV000323054]|not provided [RCV002521370] Chr2:208273573 [GRCh38]
Chr2:209138297 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=) single nucleotide variant Fleck corneal dystrophy [RCV000334153]|not provided [RCV000909696] Chr2:208325706 [GRCh38]
Chr2:209190430 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys) single nucleotide variant Fleck corneal dystrophy [RCV000339815]|not provided [RCV002057643] Chr2:208326358 [GRCh38]
Chr2:209191082 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=) single nucleotide variant Fleck corneal dystrophy [RCV000340728]|not provided [RCV001594967] Chr2:208350862 [GRCh38]
Chr2:209215586 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*3027A>C single nucleotide variant Fleck corneal dystrophy [RCV000341608] Chr2:208358332 [GRCh38]
Chr2:209223056 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4441C>T (p.Gln1481Ter) single nucleotide variant not provided [RCV000578987] Chr2:208336121 [GRCh38]
Chr2:209200845 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=) single nucleotide variant Fleck corneal dystrophy [RCV000308733]|not provided [RCV002521374] Chr2:208315349 [GRCh38]
Chr2:209180073 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala) single nucleotide variant Fleck corneal dystrophy [RCV000346500]|not provided [RCV002523103] Chr2:208325908 [GRCh38]
Chr2:209190632 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser) single nucleotide variant Fleck corneal dystrophy [RCV000356539] Chr2:208336116 [GRCh38]
Chr2:209200840 [GRCh37]
Chr2:2q34		 benign|uncertain significance
NM_015040.4(PIKFYVE):c.2331+12T>A single nucleotide variant Fleck corneal dystrophy [RCV000267739]|not provided [RCV003765931] Chr2:208324294 [GRCh38]
Chr2:209189018 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro) single nucleotide variant Fleck corneal dystrophy [RCV000267920] Chr2:208271583 [GRCh38]
Chr2:209136307 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys) single nucleotide variant Fleck corneal dystrophy [RCV000284516]|Inborn genetic diseases [RCV003243089] Chr2:208273718 [GRCh38]
Chr2:209138442 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1090A>G single nucleotide variant Fleck corneal dystrophy [RCV000280154] Chr2:208356395 [GRCh38]
Chr2:209221119 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=) single nucleotide variant Fleck corneal dystrophy [RCV000271233]|not provided [RCV002521378] Chr2:208342611 [GRCh38]
Chr2:209207335 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=) single nucleotide variant Fleck corneal dystrophy [RCV000373564] Chr2:208325613 [GRCh38]
Chr2:209190337 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*1923A>G single nucleotide variant Fleck corneal dystrophy [RCV000396804] Chr2:208357228 [GRCh38]
Chr2:209221952 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=) single nucleotide variant Fleck corneal dystrophy [RCV000397687] Chr2:208352665 [GRCh38]
Chr2:209217389 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.*128G>T single nucleotide variant Fleck corneal dystrophy [RCV000397699] Chr2:208355433 [GRCh38]
Chr2:209220157 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=) single nucleotide variant Fleck corneal dystrophy [RCV000300186]|not provided [RCV000966145] Chr2:208335378 [GRCh38]
Chr2:209200102 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=) single nucleotide variant Fleck corneal dystrophy [RCV000314967]|PIKFYVE-related condition [RCV003940347]|not provided [RCV000903892] Chr2:208352665 [GRCh38]
Chr2:209217389 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser) single nucleotide variant Fleck corneal dystrophy [RCV000316508]|not provided [RCV002057642] Chr2:208325606 [GRCh38]
Chr2:209190330 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=) single nucleotide variant Fleck corneal dystrophy [RCV000377720]|not provided [RCV000948617] Chr2:208273690 [GRCh38]
Chr2:209138414 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=) single nucleotide variant Fleck corneal dystrophy [RCV000301705]|PIKFYVE-related condition [RCV003969959]|not provided [RCV003546535] Chr2:208325346 [GRCh38]
Chr2:209190070 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2185C>G single nucleotide variant Fleck corneal dystrophy [RCV000316914] Chr2:208357490 [GRCh38]
Chr2:209222214 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln) single nucleotide variant Fleck corneal dystrophy [RCV000335905]|PIKFYVE-related condition [RCV003969958]|not provided [RCV002521371] Chr2:208314312 [GRCh38]
Chr2:209179036 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2143G>C single nucleotide variant Fleck corneal dystrophy [RCV000356127] Chr2:208357448 [GRCh38]
Chr2:209222172 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*3324A>G single nucleotide variant Fleck corneal dystrophy [RCV000357007] Chr2:208358629 [GRCh38]
Chr2:209223353 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln) single nucleotide variant Fleck corneal dystrophy [RCV000402868] Chr2:208350909 [GRCh38]
Chr2:209215633 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2738A>G single nucleotide variant Fleck corneal dystrophy [RCV000288887] Chr2:208358043 [GRCh38]
Chr2:209222767 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val) single nucleotide variant Fleck corneal dystrophy [RCV000358860]|Inborn genetic diseases [RCV002521376] Chr2:208325360 [GRCh38]
Chr2:209190084 [GRCh37]
Chr2:2q34		 benign|uncertain significance
NM_015040.4(PIKFYVE):c.*1499T>G single nucleotide variant Fleck corneal dystrophy [RCV000403431] Chr2:208356804 [GRCh38]
Chr2:209221528 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=) single nucleotide variant Fleck corneal dystrophy [RCV000404992]|PIKFYVE-related condition [RCV003912404] Chr2:208326165 [GRCh38]
Chr2:209190889 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2548C>T single nucleotide variant Fleck corneal dystrophy [RCV000289913] Chr2:208357853 [GRCh38]
Chr2:209222577 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*729T>C single nucleotide variant Fleck corneal dystrophy [RCV000320473] Chr2:208356034 [GRCh38]
Chr2:209220758 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.*615T>A single nucleotide variant Fleck corneal dystrophy [RCV000359835] Chr2:208355920 [GRCh38]
Chr2:209220644 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.*3102_*3104dup duplication Fleck corneal dystrophy [RCV000405020] Chr2:208358399..208358400 [GRCh38]
Chr2:209223123..209223124 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*2693A>G single nucleotide variant Fleck corneal dystrophy [RCV000405813] Chr2:208357998 [GRCh38]
Chr2:209222722 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*1938G>C single nucleotide variant Fleck corneal dystrophy [RCV000305040] Chr2:208357243 [GRCh38]
Chr2:209221967 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=) single nucleotide variant Fleck corneal dystrophy [RCV000341665] Chr2:208347992 [GRCh38]
Chr2:209212716 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2027C>T single nucleotide variant Fleck corneal dystrophy [RCV000322322] Chr2:208357332 [GRCh38]
Chr2:209222056 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.*1973_*1974insA insertion Fleck corneal dystrophy [RCV000362053] Chr2:208357278..208357279 [GRCh38]
Chr2:209222002..209222003 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu) single nucleotide variant Fleck corneal dystrophy [RCV000386356]|not provided [RCV002051842] Chr2:208325795 [GRCh38]
Chr2:209190519 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*1262T>G single nucleotide variant Fleck corneal dystrophy [RCV000292840] Chr2:208356567 [GRCh38]
Chr2:209221291 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala) single nucleotide variant Fleck corneal dystrophy [RCV000307427] Chr2:208320333 [GRCh38]
Chr2:209185057 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2495A>G single nucleotide variant Fleck corneal dystrophy [RCV000386662] Chr2:208357800 [GRCh38]
Chr2:209222524 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser) single nucleotide variant Fleck corneal dystrophy [RCV000293929]|not provided [RCV002051843] Chr2:208325804 [GRCh38]
Chr2:209190528 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*209G>C single nucleotide variant Fleck corneal dystrophy [RCV000308950] Chr2:208355514 [GRCh38]
Chr2:209220238 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*240C>T single nucleotide variant Fleck corneal dystrophy [RCV000365972] Chr2:208355545 [GRCh38]
Chr2:209220269 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=) single nucleotide variant Fleck corneal dystrophy [RCV000345785] Chr2:208326081 [GRCh38]
Chr2:209190805 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*78T>C single nucleotide variant Fleck corneal dystrophy [RCV000367108] Chr2:208355383 [GRCh38]
Chr2:209220107 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2549G>A single nucleotide variant Fleck corneal dystrophy [RCV000347332] Chr2:208357854 [GRCh38]
Chr2:209222578 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*2247A>G single nucleotide variant Fleck corneal dystrophy [RCV000295653] Chr2:208357552 [GRCh38]
Chr2:209222276 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly) single nucleotide variant Fleck corneal dystrophy [RCV000329856]|PIKFYVE-related condition [RCV003940346]|not provided [RCV002521377] Chr2:208340014 [GRCh38]
Chr2:209204738 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*2281del deletion Fleck corneal dystrophy [RCV000329637] Chr2:208357586 [GRCh38]
Chr2:209222310 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=) single nucleotide variant Fleck corneal dystrophy [RCV000369116]|not provided [RCV000948618] Chr2:208339476 [GRCh38]
Chr2:209204200 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=) single nucleotide variant Fleck corneal dystrophy [RCV000298050]|not provided [RCV000951242] Chr2:208338525 [GRCh38]
Chr2:209203249 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*1098A>G single nucleotide variant Fleck corneal dystrophy [RCV000351498] Chr2:208356403 [GRCh38]
Chr2:209221127 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.*3186A>T single nucleotide variant Fleck corneal dystrophy [RCV000395415] Chr2:208358491 [GRCh38]
Chr2:209223215 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*777A>G single nucleotide variant Fleck corneal dystrophy [RCV000280674] Chr2:208356082 [GRCh38]
Chr2:209220806 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.-157A>T single nucleotide variant Fleck corneal dystrophy [RCV000271310] Chr2:208266268 [GRCh38]
Chr2:209130992 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr) single nucleotide variant Fleck corneal dystrophy [RCV000278477] Chr2:208304998 [GRCh38]
Chr2:209169722 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*720A>G single nucleotide variant Fleck corneal dystrophy [RCV000267522] Chr2:208356025 [GRCh38]
Chr2:209220749 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter) single nucleotide variant Fleck corneal dystrophy [RCV000490347] Chr2:208326311 [GRCh38]
Chr2:209191035 [GRCh37]
Chr2:2q34		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015040.4(PIKFYVE):c.*1826A>G single nucleotide variant Fleck corneal dystrophy [RCV000363214] Chr2:208357131 [GRCh38]
Chr2:209221855 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*3099_*3100insGTTTTTTTT insertion Fleck corneal dystrophy [RCV000305804] Chr2:208358399..208358400 [GRCh38]
Chr2:209223123..209223124 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg) single nucleotide variant Fleck corneal dystrophy [RCV000348639] Chr2:208315294 [GRCh38]
Chr2:209180018 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1196A>G single nucleotide variant Fleck corneal dystrophy [RCV000404250] Chr2:208356501 [GRCh38]
Chr2:209221225 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*798A>G single nucleotide variant Fleck corneal dystrophy [RCV000319295] Chr2:208356103 [GRCh38]
Chr2:209220827 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys) single nucleotide variant Fleck corneal dystrophy [RCV000386604] Chr2:208342580 [GRCh38]
Chr2:209207304 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.-160A>G single nucleotide variant Fleck corneal dystrophy [RCV000344924] Chr2:208266265 [GRCh38]
Chr2:209130989 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*1429G>C single nucleotide variant Fleck corneal dystrophy [RCV000350061] Chr2:208356734 [GRCh38]
Chr2:209221458 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5716-11C>A single nucleotide variant Fleck corneal dystrophy [RCV000336019] Chr2:208352643 [GRCh38]
Chr2:209217367 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*2218A>T single nucleotide variant Fleck corneal dystrophy [RCV000387705] Chr2:208357523 [GRCh38]
Chr2:209222247 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*3304TGTAT[1] microsatellite Fleck corneal dystrophy [RCV000297453] Chr2:208358609..208358613 [GRCh38]
Chr2:209223333..209223337 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*1001G>T single nucleotide variant Fleck corneal dystrophy [RCV000372335] Chr2:208356306 [GRCh38]
Chr2:209221030 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1638del deletion Fleck corneal dystrophy [RCV000310373] Chr2:208356942 [GRCh38]
Chr2:209221666 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys) single nucleotide variant Fleck corneal dystrophy [RCV000288578] Chr2:208325933 [GRCh38]
Chr2:209190657 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*552T>G single nucleotide variant Fleck corneal dystrophy [RCV000326136] Chr2:208355857 [GRCh38]
Chr2:209220581 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His) single nucleotide variant Fleck corneal dystrophy [RCV000375394] Chr2:208304899 [GRCh38]
Chr2:209169623 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*3099_*3100insGTT insertion Fleck corneal dystrophy [RCV000341960] Chr2:208358402..208358403 [GRCh38]
Chr2:209223126..209223127 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.-166A>T single nucleotide variant Fleck corneal dystrophy [RCV000287642] Chr2:208266259 [GRCh38]
Chr2:209130983 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.*772dup duplication Fleck corneal dystrophy [RCV000377464] Chr2:208356071..208356072 [GRCh38]
Chr2:209220795..209220796 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*2763C>T single nucleotide variant Fleck corneal dystrophy [RCV001138372] Chr2:208358068 [GRCh38]
Chr2:209222792 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*2739A>C single nucleotide variant Fleck corneal dystrophy [RCV001138371] Chr2:208358044 [GRCh38]
Chr2:209222768 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34(chr2:209164383-210460943)x4 copy number gain not provided [RCV000682126] Chr2:209164383..210460943 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_015040.4(PIKFYVE):c.3066C>T (p.Asp1022=) single nucleotide variant not provided [RCV000924057] Chr2:208325877 [GRCh38]
Chr2:209190601 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1051-4G>T single nucleotide variant not provided [RCV000982427] Chr2:208300933 [GRCh38]
Chr2:209165657 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.322+1G>A single nucleotide variant not provided [RCV001043885] Chr2:208273734 [GRCh38]
Chr2:209138458 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter) single nucleotide variant Fleck corneal dystrophy [RCV000779298] Chr2:208325770 [GRCh38]
Chr2:209190494 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3719+14C>A single nucleotide variant Fleck corneal dystrophy [RCV001137610] Chr2:208328294 [GRCh38]
Chr2:209193018 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2796G>A (p.Leu932=) single nucleotide variant not provided [RCV000938127] Chr2:208325607 [GRCh38]
Chr2:209190331 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*2520T>A single nucleotide variant Fleck corneal dystrophy [RCV001138369] Chr2:208357825 [GRCh38]
Chr2:209222549 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3 copy number gain not provided [RCV001005372] Chr2:208965516..209396109 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
NM_015040.4(PIKFYVE):c.5845-2A>T single nucleotide variant not provided [RCV001056840] Chr2:208353896 [GRCh38]
Chr2:209218620 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.*2030G>C single nucleotide variant Fleck corneal dystrophy [RCV001137954] Chr2:208357335 [GRCh38]
Chr2:209222059 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3 copy number gain not provided [RCV000847075] Chr2:208956981..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q34(chr2:209055235-209503614)x3 copy number gain not provided [RCV000849526] Chr2:209055235..209503614 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 copy number gain not provided [RCV000847666] Chr2:208965515..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=) single nucleotide variant Fleck corneal dystrophy [RCV001139967] Chr2:208354629 [GRCh38]
Chr2:209219353 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1624A>T single nucleotide variant Fleck corneal dystrophy [RCV001142697] Chr2:208356929 [GRCh38]
Chr2:209221653 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*3074A>C single nucleotide variant Fleck corneal dystrophy [RCV001140957] Chr2:208358379 [GRCh38]
Chr2:209223103 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*3100T>G single nucleotide variant Fleck corneal dystrophy [RCV001140958] Chr2:208358405 [GRCh38]
Chr2:209223129 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=) single nucleotide variant Fleck corneal dystrophy [RCV001137609] Chr2:208326270 [GRCh38]
Chr2:209190994 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*814T>G single nucleotide variant Fleck corneal dystrophy [RCV001137841] Chr2:208356119 [GRCh38]
Chr2:209220843 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5999C>T (p.Thr2000Ile) single nucleotide variant Inborn genetic diseases [RCV003250185] Chr2:208354052 [GRCh38]
Chr2:209218776 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5218G>C (p.Ala1740Pro) single nucleotide variant Inborn genetic diseases [RCV003252814] Chr2:208347867 [GRCh38]
Chr2:209212591 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=) single nucleotide variant Fleck corneal dystrophy [RCV001140402]|PIKFYVE-related condition [RCV003960638]|not provided [RCV000952504] Chr2:208301092 [GRCh38]
Chr2:209165816 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4157G>A (p.Arg1386Gln) single nucleotide variant PIKFYVE-related condition [RCV003958316]|not provided [RCV000910753] Chr2:208335320 [GRCh38]
Chr2:209200044 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.233A>T (p.Gln78Leu) single nucleotide variant not provided [RCV000888929] Chr2:208273644 [GRCh38]
Chr2:209138368 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2184G>A (p.Val728=) single nucleotide variant not provided [RCV000888930] Chr2:208320353 [GRCh38]
Chr2:209185077 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.1348C>T (p.Pro450Ser) single nucleotide variant not provided [RCV000953341] Chr2:208304198 [GRCh38]
Chr2:209168922 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr) single nucleotide variant Fleck corneal dystrophy [RCV001139735] Chr2:208325452 [GRCh38]
Chr2:209190176 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=) single nucleotide variant Fleck corneal dystrophy [RCV001139839] Chr2:208336902 [GRCh38]
Chr2:209201626 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu) single nucleotide variant Fleck corneal dystrophy [RCV001140515] Chr2:208325684 [GRCh38]
Chr2:209190408 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*492T>A single nucleotide variant Fleck corneal dystrophy [RCV001140722] Chr2:208355797 [GRCh38]
Chr2:209220521 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.853_854del (p.Leu285fs) microsatellite not provided [RCV001207567] Chr2:208288758..208288759 [GRCh38]
Chr2:209153482..209153483 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.*1358C>T single nucleotide variant Fleck corneal dystrophy [RCV001140848] Chr2:208356663 [GRCh38]
Chr2:209221387 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile) single nucleotide variant Fleck corneal dystrophy [RCV001142265] Chr2:208315320 [GRCh38]
Chr2:209180044 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*518C>T single nucleotide variant Fleck corneal dystrophy [RCV001142589] Chr2:208355823 [GRCh38]
Chr2:209220547 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys) single nucleotide variant Fleck corneal dystrophy [RCV001142485] Chr2:208347945 [GRCh38]
Chr2:209212669 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*519G>A single nucleotide variant Fleck corneal dystrophy [RCV001142590] Chr2:208355824 [GRCh38]
Chr2:209220548 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1621A>G single nucleotide variant Fleck corneal dystrophy [RCV001142696] Chr2:208356926 [GRCh38]
Chr2:209221650 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.-153A>T single nucleotide variant Fleck corneal dystrophy [RCV001137412] Chr2:208266272 [GRCh38]
Chr2:209130996 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*868T>C single nucleotide variant Fleck corneal dystrophy [RCV001137842] Chr2:208356173 [GRCh38]
Chr2:209220897 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile) single nucleotide variant Fleck corneal dystrophy [RCV001139648] Chr2:208273646 [GRCh38]
Chr2:209138370 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2458+10C>G single nucleotide variant Fleck corneal dystrophy [RCV001139733] Chr2:208325047 [GRCh38]
Chr2:209189771 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile) single nucleotide variant Fleck corneal dystrophy [RCV001139837] Chr2:208336876 [GRCh38]
Chr2:209201600 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5716-4T>C single nucleotide variant Fleck corneal dystrophy [RCV001139965] Chr2:208352650 [GRCh38]
Chr2:209217374 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=) single nucleotide variant Fleck corneal dystrophy [RCV001139968] Chr2:208355251 [GRCh38]
Chr2:209219975 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.2459-10T>C single nucleotide variant Fleck corneal dystrophy [RCV001139734] Chr2:208325260 [GRCh38]
Chr2:209189984 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn) single nucleotide variant Fleck corneal dystrophy [RCV001139840] Chr2:208336924 [GRCh38]
Chr2:209201648 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1468+15C>T single nucleotide variant Fleck corneal dystrophy [RCV001140404] Chr2:208304333 [GRCh38]
Chr2:209169057 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys) single nucleotide variant Fleck corneal dystrophy [RCV001140405]|not provided [RCV003769670] Chr2:208314308 [GRCh38]
Chr2:209179032 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4932-13A>C single nucleotide variant Fleck corneal dystrophy [RCV001140624] Chr2:208342541 [GRCh38]
Chr2:209207265 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly) single nucleotide variant Fleck corneal dystrophy [RCV001140517] Chr2:208325765 [GRCh38]
Chr2:209190489 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1382T>C single nucleotide variant Fleck corneal dystrophy [RCV001140849] Chr2:208356687 [GRCh38]
Chr2:209221411 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*2861C>G single nucleotide variant Fleck corneal dystrophy [RCV001140956] Chr2:208358166 [GRCh38]
Chr2:209222890 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4811-9T>C single nucleotide variant Fleck corneal dystrophy [RCV001140623] Chr2:208340002 [GRCh38]
Chr2:209204726 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.*2520T>C single nucleotide variant Fleck corneal dystrophy [RCV001138370] Chr2:208357825 [GRCh38]
Chr2:209222549 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His) single nucleotide variant Fleck corneal dystrophy [RCV001137611]|Inborn genetic diseases [RCV003163299] Chr2:208330535 [GRCh38]
Chr2:209195259 [GRCh37]
Chr2:2q34		 likely benign|uncertain significance
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp) single nucleotide variant Fleck corneal dystrophy [RCV001137612]|not provided [RCV003433022] Chr2:208335319 [GRCh38]
Chr2:209200043 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly) single nucleotide variant Fleck corneal dystrophy [RCV001142484] Chr2:208346075 [GRCh38]
Chr2:209210799 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.*2238A>G single nucleotide variant Fleck corneal dystrophy [RCV001137955] Chr2:208357543 [GRCh38]
Chr2:209222267 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=) single nucleotide variant Fleck corneal dystrophy [RCV001139966]|not provided [RCV002559351] Chr2:208354113 [GRCh38]
Chr2:209218837 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His) single nucleotide variant Fleck corneal dystrophy [RCV001140400] Chr2:208273719 [GRCh38]
Chr2:209138443 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*210G>A single nucleotide variant Fleck corneal dystrophy [RCV001140721] Chr2:208355515 [GRCh38]
Chr2:209220239 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=) single nucleotide variant Fleck corneal dystrophy [RCV001139736] Chr2:208325544 [GRCh38]
Chr2:209190268 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=) single nucleotide variant Fleck corneal dystrophy [RCV001142264] Chr2:208314343 [GRCh38]
Chr2:209179067 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=) single nucleotide variant Fleck corneal dystrophy [RCV001140401] Chr2:208301026 [GRCh38]
Chr2:209165750 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=) single nucleotide variant Fleck corneal dystrophy [RCV001142483] Chr2:208345171 [GRCh38]
Chr2:209209895 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala) single nucleotide variant Fleck corneal dystrophy [RCV001140516] Chr2:208325692 [GRCh38]
Chr2:209190416 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.-134C>T single nucleotide variant Fleck corneal dystrophy [RCV001137413] Chr2:208266291 [GRCh38]
Chr2:209131015 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=) single nucleotide variant Fleck corneal dystrophy [RCV001137527] Chr2:208317875 [GRCh38]
Chr2:209182599 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2191-6A>T single nucleotide variant Fleck corneal dystrophy [RCV001137528] Chr2:208324136 [GRCh38]
Chr2:209188860 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.5434+12A>T single nucleotide variant Fleck corneal dystrophy [RCV001137732] Chr2:208350095 [GRCh38]
Chr2:209214819 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.3618+1G>A single nucleotide variant not provided [RCV001213728] Chr2:208326430 [GRCh38]
Chr2:209191154 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser) single nucleotide variant Fleck corneal dystrophy [RCV001139647] Chr2:208271544 [GRCh38]
Chr2:209136268 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile) single nucleotide variant Fleck corneal dystrophy [RCV001139838] Chr2:208336884 [GRCh38]
Chr2:209201608 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*968G>T single nucleotide variant Fleck corneal dystrophy [RCV001140085] Chr2:208356273 [GRCh38]
Chr2:209220997 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1320+4C>T single nucleotide variant Fleck corneal dystrophy [RCV001140403] Chr2:208302357 [GRCh38]
Chr2:209167081 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser) single nucleotide variant Fleck corneal dystrophy [RCV001140622] Chr2:208338536 [GRCh38]
Chr2:209203260 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.*1552G>A single nucleotide variant Fleck corneal dystrophy [RCV001140850] Chr2:208356857 [GRCh38]
Chr2:209221581 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter) single nucleotide variant Fleck corneal dystrophy [RCV002308500] Chr2:208288811 [GRCh38]
Chr2:209153535 [GRCh37]
Chr2:2q34		 pathogenic|likely pathogenic
NM_015040.4(PIKFYVE):c.4428dup (p.Val1477fs) duplication not provided [RCV001385493] Chr2:208336107..208336108 [GRCh38]
Chr2:209200831..209200832 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter) single nucleotide variant Fleck corneal dystrophy [RCV001731227] Chr2:208336191 [GRCh38]
Chr2:209200915 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter) single nucleotide variant Fleck corneal dystrophy [RCV001731226] Chr2:208324923 [GRCh38]
Chr2:209189647 [GRCh37]
Chr2:2q34		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter) single nucleotide variant Fleck corneal dystrophy [RCV001782632] Chr2:208298664 [GRCh38]
Chr2:209163388 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.1827-1G>C single nucleotide variant Fleck corneal dystrophy [RCV001782631] Chr2:208315192 [GRCh38]
Chr2:209179916 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.5435-47A>G single nucleotide variant Fleck corneal dystrophy [RCV001788919] Chr2:208350724 [GRCh38]
Chr2:209215448 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.4308_4309del (p.Asp1437fs) deletion Fleck corneal dystrophy [RCV001782633] Chr2:208335844..208335845 [GRCh38]
Chr2:209200568..209200569 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.3341A>G (p.Gln1114Arg) single nucleotide variant Inborn genetic diseases [RCV003197711] Chr2:208326152 [GRCh38]
Chr2:209190876 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1321-42C>T single nucleotide variant Fleck corneal dystrophy [RCV001788917] Chr2:208304129 [GRCh38]
Chr2:209168853 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.3-34(chr2:208801409-209164383) copy number gain not specified [RCV002053277] Chr2:208801409..209164383 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
NC_000002.11:g.(?_208986397)_(209220029_?)del deletion not provided [RCV003119473] Chr2:208986397..209220029 [GRCh37]
Chr2:2q33.3-34		 pathogenic
NC_000002.11:g.(?_209136244)_(209220029_?)dup duplication not provided [RCV003119474] Chr2:209136244..209220029 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1958A>G (p.Lys653Arg) single nucleotide variant not provided [RCV002278993] Chr2:208315324 [GRCh38]
Chr2:209180048 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4192T>C (p.Phe1398Leu) single nucleotide variant Inborn genetic diseases [RCV003258021] Chr2:208335355 [GRCh38]
Chr2:209200079 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_015040.4(PIKFYVE):c.1275C>G (p.His425Gln) single nucleotide variant Inborn genetic diseases [RCV002970500] Chr2:208302308 [GRCh38]
Chr2:209167032 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3963+17A>C single nucleotide variant not provided [RCV002775981] Chr2:208330711 [GRCh38]
Chr2:209195435 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.4042C>T (p.His1348Tyr) single nucleotide variant Inborn genetic diseases [RCV002689899] Chr2:208333393 [GRCh38]
Chr2:209198117 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.569G>A (p.Arg190His) single nucleotide variant Inborn genetic diseases [RCV002864628] Chr2:208277664 [GRCh38]
Chr2:209142388 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3907G>A (p.Val1303Ile) single nucleotide variant Inborn genetic diseases [RCV002734622] Chr2:208330638 [GRCh38]
Chr2:209195362 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5138G>A (p.Ser1713Asn) single nucleotide variant Inborn genetic diseases [RCV002865710] Chr2:208346076 [GRCh38]
Chr2:209210800 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1637-17G>A single nucleotide variant not provided [RCV002776088] Chr2:208312219 [GRCh38]
Chr2:209176943 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2082+22_2082+34del deletion not provided [RCV002770960] Chr2:208317954..208317966 [GRCh38]
Chr2:209182678..209182690 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.3565G>C (p.Glu1189Gln) single nucleotide variant Inborn genetic diseases [RCV002774503] Chr2:208326376 [GRCh38]
Chr2:209191100 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4757C>A (p.Ser1586Tyr) single nucleotide variant Inborn genetic diseases [RCV002836820] Chr2:208339502 [GRCh38]
Chr2:209204226 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5333C>T (p.Thr1778Met) single nucleotide variant Inborn genetic diseases [RCV002906086] Chr2:208347982 [GRCh38]
Chr2:209212706 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2682G>C (p.Glu894Asp) single nucleotide variant Inborn genetic diseases [RCV002924341] Chr2:208325493 [GRCh38]
Chr2:209190217 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.242C>T (p.Ser81Leu) single nucleotide variant not provided [RCV002663058] Chr2:208273653 [GRCh38]
Chr2:209138377 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.6010A>G (p.Ser2004Gly) single nucleotide variant Inborn genetic diseases [RCV002797531] Chr2:208354063 [GRCh38]
Chr2:209218787 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.292G>A (p.Glu98Lys) single nucleotide variant Inborn genetic diseases [RCV002758320] Chr2:208273703 [GRCh38]
Chr2:209138427 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1984C>G (p.Arg662Gly) single nucleotide variant not provided [RCV002592226] Chr2:208315350 [GRCh38]
Chr2:209180074 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2572T>C (p.Phe858Leu) single nucleotide variant Inborn genetic diseases [RCV002845514] Chr2:208325383 [GRCh38]
Chr2:209190107 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3407C>G (p.Thr1136Ser) single nucleotide variant Inborn genetic diseases [RCV002757771] Chr2:208326218 [GRCh38]
Chr2:209190942 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5837T>C (p.Met1946Thr) single nucleotide variant Inborn genetic diseases [RCV002691731] Chr2:208352775 [GRCh38]
Chr2:209217499 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3482G>A (p.Arg1161Lys) single nucleotide variant Inborn genetic diseases [RCV002954468] Chr2:208326293 [GRCh38]
Chr2:209191017 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5279A>G (p.Gln1760Arg) single nucleotide variant Inborn genetic diseases [RCV003006638] Chr2:208347928 [GRCh38]
Chr2:209212652 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5667C>G (p.Asp1889Glu) single nucleotide variant Inborn genetic diseases [RCV002849913] Chr2:208351407 [GRCh38]
Chr2:209216131 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.985A>G (p.Ser329Gly) single nucleotide variant Inborn genetic diseases [RCV002641906] Chr2:208298714 [GRCh38]
Chr2:209163438 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5828G>A (p.Gly1943Glu) single nucleotide variant Inborn genetic diseases [RCV003006537] Chr2:208352766 [GRCh38]
Chr2:209217490 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4491C>G (p.Leu1497=) single nucleotide variant not provided [RCV003059524] Chr2:208336171 [GRCh38]
Chr2:209200895 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.3941C>G (p.Ser1314Cys) single nucleotide variant Inborn genetic diseases [RCV002788705] Chr2:208330672 [GRCh38]
Chr2:209195396 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3437A>G (p.Gln1146Arg) single nucleotide variant Inborn genetic diseases [RCV002698522] Chr2:208326248 [GRCh38]
Chr2:209190972 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2459-20_2459-19del deletion not provided [RCV002790059] Chr2:208325249..208325250 [GRCh38]
Chr2:209189973..209189974 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2834A>G (p.Asn945Ser) single nucleotide variant Inborn genetic diseases [RCV003003421] Chr2:208325645 [GRCh38]
Chr2:209190369 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1123C>T (p.Arg375Cys) single nucleotide variant Inborn genetic diseases [RCV002940632] Chr2:208301009 [GRCh38]
Chr2:209165733 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1259A>G (p.Asp420Gly) single nucleotide variant Inborn genetic diseases [RCV002941486] Chr2:208302292 [GRCh38]
Chr2:209167016 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3297G>A (p.Glu1099=) single nucleotide variant not provided [RCV003063159] Chr2:208326108 [GRCh38]
Chr2:209190832 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.376G>A (p.Val126Ile) single nucleotide variant Inborn genetic diseases [RCV002936031] Chr2:208276765 [GRCh38]
Chr2:209141489 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4727T>C (p.Leu1576Pro) single nucleotide variant Inborn genetic diseases [RCV003010546] Chr2:208339472 [GRCh38]
Chr2:209204196 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2873A>G (p.His958Arg) single nucleotide variant Inborn genetic diseases [RCV002989557] Chr2:208325684 [GRCh38]
Chr2:209190408 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2843A>C (p.Gln948Pro) single nucleotide variant Inborn genetic diseases [RCV002669342] Chr2:208325654 [GRCh38]
Chr2:209190378 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4160T>G (p.Leu1387Arg) single nucleotide variant not provided [RCV002600094] Chr2:208335323 [GRCh38]
Chr2:209200047 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3096CTC[1] (p.Ser1034del) microsatellite not provided [RCV002938944] Chr2:208325906..208325908 [GRCh38]
Chr2:209190630..209190632 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.54T>A (p.Pro18=) single nucleotide variant not provided [RCV002725431] Chr2:208271573 [GRCh38]
Chr2:209136297 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4681T>C (p.Phe1561Leu) single nucleotide variant Inborn genetic diseases [RCV002723806] Chr2:208339426 [GRCh38]
Chr2:209204150 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5723C>T (p.Thr1908Met) single nucleotide variant Inborn genetic diseases [RCV002678660] Chr2:208352661 [GRCh38]
Chr2:209217385 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4142+10C>A single nucleotide variant not provided [RCV002677011] Chr2:208333503 [GRCh38]
Chr2:209198227 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1340C>G (p.Thr447Arg) single nucleotide variant Inborn genetic diseases [RCV002945067] Chr2:208304190 [GRCh38]
Chr2:209168914 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5704G>C (p.Val1902Leu) single nucleotide variant Inborn genetic diseases [RCV003218378] Chr2:208351444 [GRCh38]
Chr2:209216168 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2719G>A (p.Gly907Ser) single nucleotide variant Inborn genetic diseases [RCV003179777] Chr2:208325530 [GRCh38]
Chr2:209190254 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4054C>T (p.Arg1352Cys) single nucleotide variant Inborn genetic diseases [RCV003180964] Chr2:208333405 [GRCh38]
Chr2:209198129 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3581G>A (p.Arg1194Lys) single nucleotide variant Inborn genetic diseases [RCV003215474] Chr2:208326392 [GRCh38]
Chr2:209191116 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.20C>T (p.Thr7Met) single nucleotide variant Inborn genetic diseases [RCV003220761] Chr2:208271539 [GRCh38]
Chr2:209136263 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2095A>G (p.Ile699Val) single nucleotide variant Inborn genetic diseases [RCV003206152] Chr2:208320264 [GRCh38]
Chr2:209184988 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2345G>A (p.Arg782Gln) single nucleotide variant Inborn genetic diseases [RCV003197824] Chr2:208324924 [GRCh38]
Chr2:209189648 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4521G>T (p.Arg1507Ser) single nucleotide variant not provided [RCV003219063] Chr2:208336838 [GRCh38]
Chr2:209201562 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.1219A>G (p.Ile407Val) single nucleotide variant Inborn genetic diseases [RCV003189774] Chr2:208302252 [GRCh38]
Chr2:209166976 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_015040.4(PIKFYVE):c.5682C>G (p.Tyr1894Ter) single nucleotide variant PIKFYVE-related condition [RCV003397733] Chr2:208351422 [GRCh38]
Chr2:209216146 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.889G>C (p.Gly297Arg) single nucleotide variant Inborn genetic diseases [RCV003347824] Chr2:208288796 [GRCh38]
Chr2:209153520 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4763A>C (p.Gln1588Pro) single nucleotide variant Inborn genetic diseases [RCV003354571] Chr2:208339508 [GRCh38]
Chr2:209204232 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly) single nucleotide variant Inborn genetic diseases [RCV003355260] Chr2:208326314 [GRCh38]
Chr2:209191038 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3641A>G (p.Asn1214Ser) single nucleotide variant Inborn genetic diseases [RCV003383950] Chr2:208328202 [GRCh38]
Chr2:209192926 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.3385C>G (p.Pro1129Ala) single nucleotide variant Inborn genetic diseases [RCV003363909] Chr2:208326196 [GRCh38]
Chr2:209190920 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.6068G>A (p.Arg2023Gln) single nucleotide variant not provided [RCV003429521] Chr2:208354121 [GRCh38]
Chr2:209218845 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.747T>C (p.Ser249=) single nucleotide variant not provided [RCV003429520] Chr2:208285859 [GRCh38]
Chr2:209150583 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1031del (p.Asp344fs) deletion PIKFYVE-related condition [RCV003399537] Chr2:208298760 [GRCh38]
Chr2:209163484 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.1510C>T (p.Gln504Ter) single nucleotide variant PIKFYVE-related condition [RCV003391331] Chr2:208304887 [GRCh38]
Chr2:209169611 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_015040.4(PIKFYVE):c.1275C>T (p.His425=) single nucleotide variant not provided [RCV003440145] Chr2:208302308 [GRCh38]
Chr2:209167032 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.178G>A (p.Ala60Thr) single nucleotide variant not provided [RCV003429519] Chr2:208273589 [GRCh38]
Chr2:209138313 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.3112C>T (p.Arg1038Ter) single nucleotide variant PIKFYVE-related condition [RCV003420996] Chr2:208325923 [GRCh38]
Chr2:209190647 [GRCh37]
Chr2:2q34		 pathogenic
NM_015040.4(PIKFYVE):c.3618+3G>A single nucleotide variant not provided [RCV003713012] Chr2:208326432 [GRCh38]
Chr2:209191156 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.2082+6G>A single nucleotide variant not provided [RCV003692156] Chr2:208317947 [GRCh38]
Chr2:209182671 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5435-4A>G single nucleotide variant not provided [RCV003548402] Chr2:208350767 [GRCh38]
Chr2:209215491 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2191-10_2191-6del deletion not provided [RCV003548342] Chr2:208324129..208324133 [GRCh38]
Chr2:209188853..209188857 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.2332-20A>C single nucleotide variant not provided [RCV003816805] Chr2:208324891 [GRCh38]
Chr2:209189615 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.3357T>C (p.Ser1119=) single nucleotide variant not provided [RCV003817011] Chr2:208326168 [GRCh38]
Chr2:209190892 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.2045A>G (p.Asn682Ser) single nucleotide variant not provided [RCV003559411] Chr2:208317904 [GRCh38]
Chr2:209182628 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.6106+9A>G single nucleotide variant not provided [RCV003815868] Chr2:208354168 [GRCh38]
Chr2:209218892 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.2452C>T (p.Pro818Ser) single nucleotide variant PIKFYVE-related condition [RCV003954230]|not provided [RCV003551678] Chr2:208325031 [GRCh38]
Chr2:209189755 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 copy number gain not specified [RCV003986330] Chr2:208965515..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
GRCh37/hg19 2q34(chr2:209188164-209274799)x1 copy number loss not specified [RCV003986265] Chr2:209188164..209274799 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.4633C>G (p.Pro1545Ala) single nucleotide variant not provided [RCV003723054] Chr2:208338529 [GRCh38]
Chr2:209203253 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.2958C>T (p.Asp986=) single nucleotide variant not provided [RCV003733741] Chr2:208325769 [GRCh38]
Chr2:209190493 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.257T>G (p.Val86Gly) single nucleotide variant not provided [RCV003887161] Chr2:208273668 [GRCh38]
Chr2:209138392 [GRCh37]
Chr2:2q34		 uncertain significance
NM_015040.4(PIKFYVE):c.5724G>A (p.Thr1908=) single nucleotide variant PIKFYVE-related condition [RCV003927199] Chr2:208352662 [GRCh38]
Chr2:209217386 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4863G>A (p.Lys1621=) single nucleotide variant PIKFYVE-related condition [RCV003981476] Chr2:208340063 [GRCh38]
Chr2:209204787 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4257-3T>C single nucleotide variant PIKFYVE-related condition [RCV003924551] Chr2:208335790 [GRCh38]
Chr2:209200514 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1908C>T (p.Ile636=) single nucleotide variant PIKFYVE-related condition [RCV003961938] Chr2:208315274 [GRCh38]
Chr2:209179998 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.4870A>G (p.Met1624Val) single nucleotide variant PIKFYVE-related condition [RCV003923897] Chr2:208340070 [GRCh38]
Chr2:209204794 [GRCh37]
Chr2:2q34		 benign
NM_015040.4(PIKFYVE):c.5844+10T>G single nucleotide variant PIKFYVE-related condition [RCV003906805] Chr2:208352792 [GRCh38]
Chr2:209217516 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.3166A>G (p.Ile1056Val) single nucleotide variant PIKFYVE-related condition [RCV003897366] Chr2:208325977 [GRCh38]
Chr2:209190701 [GRCh37]
Chr2:2q34		 likely benign
NM_015040.4(PIKFYVE):c.1917A>G (p.Ser639=) single nucleotide variant PIKFYVE-related condition [RCV003947342] Chr2:208315283 [GRCh38]
Chr2:209180007 [GRCh37]
Chr2:2q34		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR324hsa-miR-324-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3576
Count of miRNA genes:1250
Interacting mature miRNAs:1593
Transcripts:ENST00000264380, ENST00000308862, ENST00000392202, ENST00000407449, ENST00000422495, ENST00000443896, ENST00000452564, ENST00000474721, ENST00000477200
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D2S325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372208,270,870 - 208,270,982UniSTSGRCh37
GRCh372208,270,783 - 208,270,984UniSTSGRCh37
Build 362207,979,028 - 207,979,229RGDNCBI36
Celera2202,032,246 - 202,032,445RGD
Celera2202,032,333 - 202,032,443UniSTS
HuRef2200,121,454 - 200,121,554UniSTS
HuRef2200,121,367 - 200,121,556UniSTS
Marshfield Genetic Map2204.53RGD
Genethon Genetic Map2210.9UniSTS
TNG Radiation Hybrid Map2114291.0UniSTS
deCODE Assembly Map2204.88UniSTS
Stanford-G3 RH Map28233.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21529.6UniSTS
GeneMap99-G3 RH Map29072.0UniSTS
D2S2289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,661,771 - 203,661,959UniSTSGRCh37
Build 362203,370,016 - 203,370,204RGDNCBI36
Celera2197,414,454 - 197,414,642RGD
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q34UniSTS
HuRef2195,508,675 - 195,508,867UniSTS
Marshfield Genetic Map2199.18RGD
Marshfield Genetic Map2199.18UniSTS
Genethon Genetic Map2205.4UniSTS
deCODE Assembly Map2200.48UniSTS
Stanford-G3 RH Map28018.0UniSTS
NCBI RH Map21529.6UniSTS
GeneMap99-G3 RH Map28857.0UniSTS
RH120259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,131,592 - 209,131,717UniSTSGRCh37
Build 362208,839,837 - 208,839,962RGDNCBI36
Celera2202,899,516 - 202,899,641RGD
Cytogenetic Map2q34UniSTS
HuRef2200,979,571 - 200,979,696UniSTS
TNG Radiation Hybrid Map2113823.0UniSTS
RH123501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,169,866 - 209,170,182UniSTSGRCh37
Build 362208,878,111 - 208,878,427RGDNCBI36
Celera2202,937,774 - 202,938,090RGD
Cytogenetic Map2q34UniSTS
HuRef2201,017,294 - 201,017,610UniSTS
TNG Radiation Hybrid Map2113879.0UniSTS
GDB:386618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,213,298 - 209,213,387UniSTSGRCh37
Build 362208,921,543 - 208,921,632RGDNCBI36
Celera2202,981,230 - 202,981,319RGD
Cytogenetic Map2q34UniSTS
A005D48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,220,699 - 209,220,865UniSTSGRCh37
Build 362208,928,944 - 208,929,110RGDNCBI36
Celera2202,988,632 - 202,988,798RGD
Cytogenetic Map2q34UniSTS
HuRef2201,067,812 - 201,067,978UniSTS
GeneMap99-GB4 RH Map2646.14UniSTS
Whitehead-RH Map2972.6UniSTS
NCBI RH Map21553.1UniSTS
RH16641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,222,601 - 209,222,867UniSTSGRCh37
Build 362208,930,846 - 208,931,112RGDNCBI36
Celera2202,990,534 - 202,990,800RGD
Cytogenetic Map2q34UniSTS
HuRef2201,069,714 - 201,069,980UniSTS
GeneMap99-GB4 RH Map2645.62UniSTS
D2S1317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,145,513 - 209,145,759UniSTSGRCh37
Build 362208,853,758 - 208,854,004RGDNCBI36
Celera2202,913,433 - 202,913,679RGD
Cytogenetic Map2q34UniSTS
HuRef2200,992,955 - 200,993,201UniSTS
Whitehead-RH Map2971.7UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21553.1UniSTS
D2S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q34UniSTS
Cytogenetic Map2q37UniSTS
Marshfield Genetic Map2204.53UniSTS
Genethon Genetic Map2210.9UniSTS
deCODE Assembly Map2204.88UniSTS
Whitehead-YAC Contig Map2 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 841 991 960 131 1083 75 2519 429 1546 156 1173 1427 69 871 1405 4
Low 1598 1984 766 492 854 390 1837 1765 2186 263 286 185 106 1 333 1383 1 1
Below cutoff 15 13 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007070607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY457063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG287802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264380   ⟹   ENSP00000264380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,255 - 208,358,746 (+)Ensembl
RefSeq Acc Id: ENST00000308862   ⟹   ENSP00000308715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,278 - 208,305,128 (+)Ensembl
RefSeq Acc Id: ENST00000392202   ⟹   ENSP00000376038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,267 - 208,305,549 (+)Ensembl
RefSeq Acc Id: ENST00000407449   ⟹   ENSP00000384356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,278 - 208,305,128 (+)Ensembl
RefSeq Acc Id: ENST00000422495   ⟹   ENSP00000414477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,357 - 208,285,800 (+)Ensembl
RefSeq Acc Id: ENST00000443896   ⟹   ENSP00000407692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,267 - 208,326,107 (+)Ensembl
RefSeq Acc Id: ENST00000452564   ⟹   ENSP00000405736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,266,363 - 208,335,856 (+)Ensembl
RefSeq Acc Id: ENST00000474721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,334,372 - 208,336,865 (+)Ensembl
RefSeq Acc Id: ENST00000477200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,298,641 - 208,302,580 (+)Ensembl
RefSeq Acc Id: NM_001178000   ⟹   NP_001171471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,305,549 (+)NCBI
GRCh372209,130,990 - 209,223,475 (+)NCBI
HuRef2200,978,970 - 201,070,591 (+)ENTREZGENE
CHM1_12209,136,843 - 209,176,109 (+)NCBI
T2T-CHM13v2.02208,746,045 - 208,785,325 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015040   ⟹   NP_055855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
GRCh372209,130,990 - 209,223,475 (+)NCBI
Build 362208,839,236 - 208,931,720 (+)NCBI Archive
HuRef2200,978,970 - 201,070,591 (+)ENTREZGENE
CHM1_12209,136,843 - 209,229,320 (+)NCBI
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152671   ⟹   NP_689884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,305,549 (+)NCBI
GRCh372209,130,990 - 209,223,475 (+)NCBI
Build 362208,839,236 - 208,878,518 (+)NCBI Archive
HuRef2200,978,970 - 201,070,591 (+)ENTREZGENE
CHM1_12209,136,843 - 209,176,109 (+)NCBI
T2T-CHM13v2.02208,746,045 - 208,785,325 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510778   ⟹   XP_011509080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510779   ⟹   XP_011509081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,056 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510780   ⟹   XP_011509082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510781   ⟹   XP_011509083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510782   ⟹   XP_011509084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510783   ⟹   XP_011509085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510784   ⟹   XP_011509086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510785   ⟹   XP_011509087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510786   ⟹   XP_011509088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510787   ⟹   XP_011509089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510788   ⟹   XP_011509090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510789   ⟹   XP_011509091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510792   ⟹   XP_011509094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,335,413 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003568   ⟹   XP_016859057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003569   ⟹   XP_016859058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003570   ⟹   XP_016859059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003571   ⟹   XP_016859060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003574   ⟹   XP_016859063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,273,715 - 208,358,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443667   ⟹   XP_047299623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,056 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443670   ⟹   XP_047299626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443671   ⟹   XP_047299627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443672   ⟹   XP_047299628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,056 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443673   ⟹   XP_047299629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443674   ⟹   XP_047299630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,056 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443676   ⟹   XP_047299632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443677   ⟹   XP_047299633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443679   ⟹   XP_047299635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443680   ⟹   XP_047299636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443681   ⟹   XP_047299637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443682   ⟹   XP_047299638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443686   ⟹   XP_047299642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443687   ⟹   XP_047299643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443689   ⟹   XP_047299645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443690   ⟹   XP_047299646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443695   ⟹   XP_047299651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443696   ⟹   XP_047299652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_047443698   ⟹   XP_047299654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,276,742 - 208,358,746 (+)NCBI
RefSeq Acc Id: XM_054340966   ⟹   XP_054196941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340967   ⟹   XP_054196942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,745,934 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340968   ⟹   XP_054196943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340969   ⟹   XP_054196944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340970   ⟹   XP_054196945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,744,537 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340971   ⟹   XP_054196946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340972   ⟹   XP_054196947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340973   ⟹   XP_054196948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340974   ⟹   XP_054196949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340975   ⟹   XP_054196950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340976   ⟹   XP_054196951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340977   ⟹   XP_054196952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340978   ⟹   XP_054196953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,744,537 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340979   ⟹   XP_054196954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340980   ⟹   XP_054196955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340981   ⟹   XP_054196956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340982   ⟹   XP_054196957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340983   ⟹   XP_054196958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340984   ⟹   XP_054196959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,745,934 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340985   ⟹   XP_054196960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340986   ⟹   XP_054196961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340987   ⟹   XP_054196962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340988   ⟹   XP_054196963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340989   ⟹   XP_054196964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340990   ⟹   XP_054196965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340991   ⟹   XP_054196966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340992   ⟹   XP_054196967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340993   ⟹   XP_054196968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340994   ⟹   XP_054196969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340995   ⟹   XP_054196970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340996   ⟹   XP_054196971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340997   ⟹   XP_054196972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340998   ⟹   XP_054196973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054340999   ⟹   XP_054196974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054341000   ⟹   XP_054196975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,756,536 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054341001   ⟹   XP_054196976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,753,509 - 208,838,556 (+)NCBI
RefSeq Acc Id: XM_054341002   ⟹   XP_054196977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,815,212 (+)NCBI
RefSeq Acc Id: XR_007070607
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,353,991 (+)NCBI
RefSeq Acc Id: XR_008486304
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02208,746,045 - 208,833,798 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001171471 (Get FASTA)   NCBI Sequence Viewer  
  NP_055855 (Get FASTA)   NCBI Sequence Viewer  
  NP_689884 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509080 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509081 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509082 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509083 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509084 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509085 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509086 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509087 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509088 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509089 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509090 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509091 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509094 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859057 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859058 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859059 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859060 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859063 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299623 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299626 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299627 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299628 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299629 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299630 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299632 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299633 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299635 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299636 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299637 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299638 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299642 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299645 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299646 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299651 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299652 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299654 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196941 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196942 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196943 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196944 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196945 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196946 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196947 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196948 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196949 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196950 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196951 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196952 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196953 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196954 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196956 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196957 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196958 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196959 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196961 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196962 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196963 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196964 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196965 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196966 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196967 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196968 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196969 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196970 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196971 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196972 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196973 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196974 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196975 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196976 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196977 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH32389 (Get FASTA)   NCBI Sequence Viewer  
  AAI25053 (Get FASTA)   NCBI Sequence Viewer  
  AAI25054 (Get FASTA)   NCBI Sequence Viewer  
  AAR19397 (Get FASTA)   NCBI Sequence Viewer  
  AAX93222 (Get FASTA)   NCBI Sequence Viewer  
  AAY14870 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13663 (Get FASTA)   NCBI Sequence Viewer  
  BAA76825 (Get FASTA)   NCBI Sequence Viewer  
  BAC03674 (Get FASTA)   NCBI Sequence Viewer  
  BAC87123 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43864 (Get FASTA)   NCBI Sequence Viewer  
  EAW70444 (Get FASTA)   NCBI Sequence Viewer  
  EAW70445 (Get FASTA)   NCBI Sequence Viewer  
  EAW70446 (Get FASTA)   NCBI Sequence Viewer  
  EAW70447 (Get FASTA)   NCBI Sequence Viewer  
  EAW70448 (Get FASTA)   NCBI Sequence Viewer  
  EAW70449 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264380
  ENSP00000264380.4
  ENSP00000308715.6
  ENSP00000376038
  ENSP00000376038.3
  ENSP00000384356
  ENSP00000384356.1
  ENSP00000405736
  ENSP00000405736.1
  ENSP00000407692.1
  ENSP00000414477.1
GenBank Protein Q9Y2I7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055855   ⟸   NM_015040
- Peptide Label: isoform 2
- UniProtKB: Q8N5H0 (UniProtKB/Swiss-Prot),   Q53T36 (UniProtKB/Swiss-Prot),   Q53ST3 (UniProtKB/Swiss-Prot),   Q08AR8 (UniProtKB/Swiss-Prot),   Q08AR7 (UniProtKB/Swiss-Prot),   Q8NB67 (UniProtKB/Swiss-Prot),   Q9Y2I7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171471   ⟸   NM_001178000
- Peptide Label: isoform 4
- UniProtKB: Q9Y2I7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689884   ⟸   NM_152671
- Peptide Label: isoform 3
- UniProtKB: Q9Y2I7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509081   ⟸   XM_011510779
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509090   ⟸   XM_011510788
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011509089   ⟸   XM_011510787
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011509094   ⟸   XM_011510792
- Peptide Label: isoform X33
- UniProtKB: E9PDH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509084   ⟸   XM_011510782
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011509080   ⟸   XM_011510778
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509085   ⟸   XM_011510783
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011509083   ⟸   XM_011510781
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509087   ⟸   XM_011510785
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011509088   ⟸   XM_011510786
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011509082   ⟸   XM_011510780
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011509086   ⟸   XM_011510784
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011509091   ⟸   XM_011510789
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_016859059   ⟸   XM_017003570
- Peptide Label: isoform X23
- Sequence:
RefSeq Acc Id: XP_016859060   ⟸   XM_017003571
- Peptide Label: isoform X28
- Sequence:
RefSeq Acc Id: XP_016859057   ⟸   XM_017003568
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016859058   ⟸   XM_017003569
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016859063   ⟸   XM_017003574
- Peptide Label: isoform X32
- Sequence:
RefSeq Acc Id: ENSP00000308715   ⟸   ENST00000308862
RefSeq Acc Id: ENSP00000405736   ⟸   ENST00000452564
RefSeq Acc Id: ENSP00000407692   ⟸   ENST00000443896
RefSeq Acc Id: ENSP00000376038   ⟸   ENST00000392202
RefSeq Acc Id: ENSP00000384356   ⟸   ENST00000407449
RefSeq Acc Id: ENSP00000264380   ⟸   ENST00000264380
RefSeq Acc Id: ENSP00000414477   ⟸   ENST00000422495
RefSeq Acc Id: XP_047299623   ⟸   XM_047443667
- Peptide Label: isoform X4
- UniProtKB: Q9Y2I7 (UniProtKB/Swiss-Prot),   Q8N5H0 (UniProtKB/Swiss-Prot),   Q53T36 (UniProtKB/Swiss-Prot),   Q53ST3 (UniProtKB/Swiss-Prot),   Q08AR8 (UniProtKB/Swiss-Prot),   Q08AR7 (UniProtKB/Swiss-Prot),   Q8NB67 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047299628   ⟸   XM_047443672
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047299630   ⟸   XM_047443674
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047299636   ⟸   XM_047443680
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047299626   ⟸   XM_047443670
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047299627   ⟸   XM_047443671
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047299633   ⟸   XM_047443677
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047299629   ⟸   XM_047443673
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047299635   ⟸   XM_047443679
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047299637   ⟸   XM_047443681
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047299646   ⟸   XM_047443690
- Peptide Label: isoform X29
RefSeq Acc Id: XP_047299632   ⟸   XM_047443676
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047299642   ⟸   XM_047443686
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047299643   ⟸   XM_047443687
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047299652   ⟸   XM_047443696
- Peptide Label: isoform X31
RefSeq Acc Id: XP_047299645   ⟸   XM_047443689
- Peptide Label: isoform X27
RefSeq Acc Id: XP_047299638   ⟸   XM_047443682
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047299651   ⟸   XM_047443695
- Peptide Label: isoform X30
RefSeq Acc Id: XP_047299654   ⟸   XM_047443698
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054196945   ⟸   XM_054340970
- Peptide Label: isoform X4
- UniProtKB: V9HWG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196953   ⟸   XM_054340978
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054196942   ⟸   XM_054340967
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196959   ⟸   XM_054340984
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054196941   ⟸   XM_054340966
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196947   ⟸   XM_054340972
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054196948   ⟸   XM_054340973
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196944   ⟸   XM_054340969
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196950   ⟸   XM_054340975
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054196956   ⟸   XM_054340981
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054196963   ⟸   XM_054340988
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054196943   ⟸   XM_054340968
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196949   ⟸   XM_054340974
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196957   ⟸   XM_054340982
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054196951   ⟸   XM_054340976
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054196952   ⟸   XM_054340977
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054196961   ⟸   XM_054340986
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054196946   ⟸   XM_054340971
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054196954   ⟸   XM_054340979
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054196955   ⟸   XM_054340980
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054196962   ⟸   XM_054340987
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054196958   ⟸   XM_054340983
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054196965   ⟸   XM_054340990
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054196966   ⟸   XM_054340991
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054196972   ⟸   XM_054340997
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054196960   ⟸   XM_054340985
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054196968   ⟸   XM_054340993
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054196969   ⟸   XM_054340994
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054196974   ⟸   XM_054340999
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054196964   ⟸   XM_054340989
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054196970   ⟸   XM_054340995
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054196971   ⟸   XM_054340996
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054196967   ⟸   XM_054340992
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054196973   ⟸   XM_054340998
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054196977   ⟸   XM_054341002
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054196976   ⟸   XM_054341001
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054196975   ⟸   XM_054341000
- Peptide Label: isoform X32
Protein Domains
DEP   FYVE-type   PIPK

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2I7-F1-model_v2 AlphaFold Q9Y2I7 1-2098 view protein structure

Promoters
RGD ID:6862688
Promoter ID:EPDNEW_H4509
Type:initiation region
Name:PIKFYVE_1
Description:phosphoinositide kinase, FYVE-type zinc finger containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4508  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,266,255 - 208,266,315EPDNEW
RGD ID:6797989
Promoter ID:HG_KWN:36960
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392200,   NM_015040,   OTTHUMT00000319310,   OTTHUMT00000336673,   OTTHUMT00000340404,   UC002VCW.1,   UC002VCX.1,   UC002VCY.1,   UC010FUN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362208,838,431 - 208,839,287 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23785 AgrOrtholog
COSMIC PIKFYVE COSMIC
Ensembl Genes ENSG00000115020 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264380 ENTREZGENE
  ENST00000264380.9 UniProtKB/Swiss-Prot
  ENST00000308862.10 UniProtKB/Swiss-Prot
  ENST00000392202 ENTREZGENE
  ENST00000392202.7 UniProtKB/Swiss-Prot
  ENST00000407449 ENTREZGENE
  ENST00000407449.5 UniProtKB/Swiss-Prot
  ENST00000422495.5 UniProtKB/TrEMBL
  ENST00000443896.5 UniProtKB/TrEMBL
  ENST00000452564 ENTREZGENE
  ENST00000452564.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2-Layer Sandwich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.800.10 UniProtKB/Swiss-Prot
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphatidylinositol Phosphate Kinase II Beta UniProtKB/TrEMBL
GTEx ENSG00000115020 GTEx
HGNC ID HGNC:23785 ENTREZGENE
Human Proteome Map PIKFYVE Human Proteome Map
InterPro Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIKfyve UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIKfyve_DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIKfyve_PIPKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-4/5-kinase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:200576 UniProtKB/Swiss-Prot
NCBI Gene 200576 ENTREZGENE
OMIM 609414 OMIM
PANTHER 1-PHOSPHATIDYLINOSITOL 3-PHOSPHATE 5-KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46715 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIP5K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165697116 PharmGKB
PROSITE DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIPK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIPKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SAICAR synthase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JL08_HUMAN UniProtKB/TrEMBL
  E9PDH4 ENTREZGENE, UniProtKB/TrEMBL
  F8WEZ0_HUMAN UniProtKB/TrEMBL
  FYV1_HUMAN UniProtKB/Swiss-Prot
  L8E9N1_HUMAN UniProtKB/TrEMBL
  Q08AR7 ENTREZGENE
  Q08AR8 ENTREZGENE
  Q53ST3 ENTREZGENE
  Q53T36 ENTREZGENE
  Q8N5H0 ENTREZGENE
  Q8NB67 ENTREZGENE
  Q9Y2I7 ENTREZGENE
  V9HWG4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q08AR7 UniProtKB/Swiss-Prot
  Q08AR8 UniProtKB/Swiss-Prot
  Q53ST3 UniProtKB/Swiss-Prot
  Q53T36 UniProtKB/Swiss-Prot
  Q8N5H0 UniProtKB/Swiss-Prot
  Q8NB67 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 PIKFYVE  phosphoinositide kinase, FYVE-type zinc finger containing    phosphoinositide kinase, FYVE finger containing  Symbol and/or name change 5135510 APPROVED