GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1) - Rat Genome Database

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Gene: GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1) Homo sapiens
Analyze
Symbol: GBF1
Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
RGD ID: 1316187
HGNC Page HGNC:4181
Description: Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including Golgi disassembly; Golgi vesicle transport; and protein localization to organelle. Located in several cellular components, including Golgi apparatus; cell leading edge; and endoplasmic reticulum-Golgi intermediate compartment. Implicated in Charcot-Marie-Tooth disease dominant intermediate A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARF1GEF; BFA-resistant GEF 1; CMT2GG; CMTDI2; CMTDIA; FLJ21263; FLJ21500; golgi-specific brefeldin A resistance factor 1; golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1; golgi-specific brefeldin A-resistance factor 1; Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1; KIAA0248; MGC134877; MGC134878
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810102,230,643 - 102,382,896 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10102,245,371 - 102,382,899 (+)EnsemblGRCh38hg38GRCh38
GRCh3710103,990,400 - 104,142,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,995,299 - 104,132,639 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410103,995,298 - 104,132,639NCBI
Celera1097,746,227 - 97,883,548 (+)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,637,542 - 97,775,465 (+)NCBIHuRef
CHM1_110104,288,779 - 104,426,082 (+)NCBICHM1_1
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9039502   PMID:9828135   PMID:10402461   PMID:11031247   PMID:11252894   PMID:11533914   PMID:12047556   PMID:12168954   PMID:12477932   PMID:12634853   PMID:12646181   PMID:12808027  
PMID:15164054   PMID:15302935   PMID:15324660   PMID:15489334   PMID:15616190   PMID:15813748   PMID:16318580   PMID:16344560   PMID:16385451   PMID:16565220   PMID:16926190   PMID:16956762  
PMID:17079330   PMID:17329336   PMID:17353931   PMID:17429068   PMID:17666033   PMID:17956946   PMID:18003980   PMID:18029348   PMID:18063581   PMID:18084281   PMID:18287014   PMID:18524849  
PMID:18551169   PMID:18799457   PMID:19023417   PMID:19039328   PMID:19740986   PMID:19773279   PMID:19906930   PMID:19913121   PMID:19946888   PMID:20164217   PMID:20175751   PMID:20379614  
PMID:20497182   PMID:20504936   PMID:20530568   PMID:20562859   PMID:20628086   PMID:20854417   PMID:21722633   PMID:21789191   PMID:21909260   PMID:22185782   PMID:22359663   PMID:22360420  
PMID:22573891   PMID:22863883   PMID:23383273   PMID:23386609   PMID:23418352   PMID:23572552   PMID:23703321   PMID:23825951   PMID:23840591   PMID:23956138   PMID:24213530   PMID:24255178  
PMID:24855065   PMID:24952745   PMID:25036637   PMID:25332235   PMID:25410869   PMID:25515538   PMID:25609649   PMID:25653442   PMID:25900982   PMID:25921289   PMID:26167880   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26718629   PMID:26814617   PMID:26972000   PMID:27320910   PMID:27462432   PMID:28065597   PMID:28190767   PMID:28380382   PMID:28389568   PMID:28514442  
PMID:28675297   PMID:29046456   PMID:29112323   PMID:29180619   PMID:29361542   PMID:29507113   PMID:29507755   PMID:29568061   PMID:29778605   PMID:29898406   PMID:30021884   PMID:30459446  
PMID:30567983   PMID:30943106   PMID:30948266   PMID:31006538   PMID:31024071   PMID:31091453   PMID:31240132   PMID:31270230   PMID:31332168   PMID:31375590   PMID:31519766   PMID:31570497  
PMID:31586073   PMID:31610914   PMID:31871319   PMID:31980649   PMID:32235678   PMID:32296183   PMID:32484234   PMID:32599855   PMID:32652860   PMID:32687490   PMID:32828303   PMID:32937143  
PMID:33005030   PMID:33022573   PMID:33239621   PMID:33405949   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34428256   PMID:34432599   PMID:34591612   PMID:34709727  
PMID:34870592   PMID:35044719   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35748872   PMID:35831314   PMID:35944360  
PMID:36114006   PMID:36168628   PMID:36180527   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36305789   PMID:36543142   PMID:36931259   PMID:37314216   PMID:37317656   PMID:37774976  
PMID:37827155   PMID:38569033   PMID:38904364  


Genomics

Comparative Map Data
GBF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810102,230,643 - 102,382,896 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10102,245,371 - 102,382,899 (+)EnsemblGRCh38hg38GRCh38
GRCh3710103,990,400 - 104,142,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,995,299 - 104,132,639 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410103,995,298 - 104,132,639NCBI
Celera1097,746,227 - 97,883,548 (+)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,637,542 - 97,775,465 (+)NCBIHuRef
CHM1_110104,288,779 - 104,426,082 (+)NCBICHM1_1
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBIT2T-CHM13v2.0
Gbf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391946,140,948 - 46,274,949 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1946,140,948 - 46,274,949 (+)EnsemblGRCm39 Ensembl
GRCm381946,152,509 - 46,286,510 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1946,152,509 - 46,286,510 (+)EnsemblGRCm38mm10GRCm38
MGSCv371946,227,048 - 46,361,000 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361946,205,869 - 46,339,821 (+)NCBIMGSCv36mm8
Celera1946,916,366 - 47,049,730 (+)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.75NCBI
Gbf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81254,959,784 - 255,088,479 (+)NCBIGRCr8
mRatBN7.21245,018,535 - 245,147,052 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1245,018,568 - 245,147,042 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1253,140,270 - 253,268,687 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01259,835,181 - 259,963,390 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01252,487,000 - 252,615,168 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01265,904,616 - 266,033,107 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1265,904,566 - 266,033,156 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01273,334,980 - 273,464,048 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41251,373,242 - 251,501,663 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11251,723,054 - 251,763,642 (+)NCBI
Celera1240,801,947 - 240,930,218 (+)NCBICelera
Cytogenetic Map1q54NCBI
Gbf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554858,006,706 - 8,115,561 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554858,006,161 - 8,126,074 (-)NCBIChiLan1.0ChiLan1.0
GBF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28114,132,933 - 114,270,450 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110114,138,308 - 114,275,772 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01098,849,000 - 98,986,443 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110102,316,329 - 102,452,439 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10102,316,329 - 102,452,439 (+)Ensemblpanpan1.1panPan2
GBF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12814,775,431 - 14,896,121 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2814,788,369 - 14,895,978 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2814,947,856 - 15,068,574 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02815,249,244 - 15,370,247 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2815,249,266 - 15,370,237 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12814,794,581 - 14,915,297 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02814,833,489 - 14,954,383 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02814,966,253 - 15,086,996 (+)NCBIUU_Cfam_GSD_1.0
Gbf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721331,875,820 - 32,000,999 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366003,479,048 - 3,604,241 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366003,479,045 - 3,604,241 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GBF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14113,245,502 - 113,379,467 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114113,245,486 - 113,379,472 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214123,099,432 - 123,233,891 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GBF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1995,281,953 - 95,416,050 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl995,281,954 - 95,416,086 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604856,384,219 - 56,521,573 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gbf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248311,665,193 - 1,798,149 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248311,665,507 - 1,801,409 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GBF1
222 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 copy number loss See cases [RCV000052568] Chr10:102243341..103929730 [GRCh38]
Chr10:104003098..105689488 [GRCh37]
Chr10:103993088..105679478 [NCBI36]
Chr10:10q24.32-24.33
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_005029.4(PITX3):c.524A>C (p.Asn175Thr) single nucleotide variant Inborn genetic diseases [RCV003212089] Chr10:102230899 [GRCh38]
Chr10:103990656 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.285C>T (p.Ile95=) single nucleotide variant Anterior segment dysgenesis 1 [RCV001788060]|Cataract 11 multiple types [RCV001788061]|not provided [RCV000828394]|not specified [RCV000177223] Chr10:102231624 [GRCh38]
Chr10:103991381 [GRCh37]
Chr10:10q24.32
benign
NM_005029.4(PITX3):c.640_656del (p.Ala214fs) deletion Anterior segment dysgenesis 1 [RCV004787888]|Cataract 11 multiple types [RCV004559169]|not provided [RCV002526156] Chr10:102230767..102230783 [GRCh38]
Chr10:103990524..103990540 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic|uncertain significance
NM_005029.4(PITX3):c.773A>G (p.Asp258Gly) single nucleotide variant not provided [RCV001310574] Chr10:102230650 [GRCh38]
Chr10:103990407 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.646C>T (p.Gln216Ter) single nucleotide variant not provided [RCV000414049] Chr10:102230777 [GRCh38]
Chr10:103990534 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) duplication ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES [RCV002294347]|Cataract 11 multiple types [RCV003333078]|Cataract 11, posterior polar [RCV002294346]|PITX3-related disorder [RCV004755963]|not provided [RCV000627511] Chr10:102230766..102230767 [GRCh38]
Chr10:103990523..103990524 [GRCh37]
Chr10:10q24.32
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_001199378.1(GBF1):c.163+28403G>A single nucleotide variant Lung cancer [RCV000108530] Chr10:102288519 [GRCh38]
Chr10:104048276 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001199378.1(GBF1):c.639+1827C>G single nucleotide variant Lung cancer [RCV000108531] Chr10:102355481 [GRCh38]
Chr10:104115238 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) single nucleotide variant not provided [RCV001343873] Chr10:102231035 [GRCh38]
Chr10:103990792 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_001377137.1(GBF1):c.5086T>G (p.Ser1696Ala) single nucleotide variant not specified [RCV004323591] Chr10:102380599 [GRCh38]
Chr10:104140356 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5093T>C (p.Leu1698Pro) single nucleotide variant not specified [RCV004324357] Chr10:102380606 [GRCh38]
Chr10:104140363 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1 copy number loss not provided [RCV000683260] Chr10:103891057..105339973 [GRCh37]
Chr10:10q24.32-24.33
likely pathogenic
GRCh37/hg19 10q24.32(chr10:104004798-104015279)x1 copy number loss not provided [RCV000737291] Chr10:104004798..104015279 [GRCh37]
Chr10:10q24.32
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001377137.1(GBF1):c.524-7T>C single nucleotide variant not provided [RCV000954556] Chr10:102352451 [GRCh38]
Chr10:104112208 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.4326A>G (p.Lys1442=) single nucleotide variant not provided [RCV000954557] Chr10:102376972 [GRCh38]
Chr10:104136729 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.4470G>A (p.Thr1490=) single nucleotide variant not provided [RCV000954558] Chr10:102377116 [GRCh38]
Chr10:104136873 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.5233G>A (p.Ala1745Thr) single nucleotide variant not specified [RCV004289371] Chr10:102381186 [GRCh38]
Chr10:104140943 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.-12-273A>G single nucleotide variant not provided [RCV001710234] Chr10:102232365 [GRCh38]
Chr10:103992122 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730753]|Motor axonal neuropathy [RCV001249193] Chr10:102368807 [GRCh38]
Chr10:104128564 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730752]|Motor axonal neuropathy [RCV001249190] Chr10:102377031 [GRCh38]
Chr10:104136788 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_005029.4(PITX3):c.55T>A (p.Ser19Thr) single nucleotide variant not provided [RCV001325335] Chr10:102232026 [GRCh38]
Chr10:103991783 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.42T>C (p.Pro14=) single nucleotide variant not provided [RCV000329890] Chr10:102232039 [GRCh38]
Chr10:103991796 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.726CGC[6] (p.Ala250dup) microsatellite not provided [RCV001856259] Chr10:102230682..102230683 [GRCh38]
Chr10:103990439..103990440 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.657_658insCCAGACCCTGCAGGGCC (p.Gly220fs) insertion not provided [RCV001380230] Chr10:102230765..102230766 [GRCh38]
Chr10:103990522..103990523 [GRCh37]
Chr10:10q24.32
pathogenic
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1
uncertain significance
NM_005029.4(PITX3):c.88G>A (p.Glu30Lys) single nucleotide variant Anterior segment dysgenesis 1 [RCV001733623] Chr10:102231993 [GRCh38]
Chr10:103991750 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4278T>A (p.Ser1426Arg) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001837616] Chr10:102376790 [GRCh38]
Chr10:104136547 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.617del (p.Pro206fs) deletion not provided [RCV002015949] Chr10:102230806 [GRCh38]
Chr10:103990563 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4384C>T (p.Arg1462Trp) single nucleotide variant not provided [RCV002211160] Chr10:102377030 [GRCh38]
Chr10:104136787 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_005029.4(PITX3):c.682G>A (p.Ala228Thr) single nucleotide variant not provided [RCV003109887] Chr10:102230741 [GRCh38]
Chr10:103990498 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q24.32(chr10:104031306-104366150)x3 copy number gain not provided [RCV002473842] Chr10:104031306..104366150 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5509G>A (p.Glu1837Lys) single nucleotide variant not specified [RCV004222254] Chr10:102382262 [GRCh38]
Chr10:104142019 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.445C>A (p.Pro149Thr) single nucleotide variant not provided [RCV002908100] Chr10:102230978 [GRCh38]
Chr10:103990735 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1409G>A (p.Arg470Gln) single nucleotide variant not specified [RCV004223701] Chr10:102361038 [GRCh38]
Chr10:104120795 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1867G>T (p.Ala623Ser) single nucleotide variant not specified [RCV004098925] Chr10:102362655 [GRCh38]
Chr10:104122412 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5384G>C (p.Ser1795Thr) single nucleotide variant not specified [RCV004603414] Chr10:102382137 [GRCh38]
Chr10:104141894 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.34C>G (p.Arg12Gly) single nucleotide variant not provided [RCV003074459] Chr10:102232047 [GRCh38]
Chr10:103991804 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5255C>G (p.Pro1752Arg) single nucleotide variant not specified [RCV004132334] Chr10:102381208 [GRCh38]
Chr10:104140965 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4415G>A (p.Arg1472Gln) single nucleotide variant not specified [RCV004226732] Chr10:102377061 [GRCh38]
Chr10:104136818 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1914G>A (p.Met638Ile) single nucleotide variant not specified [RCV004183805] Chr10:102363293 [GRCh38]
Chr10:104123050 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2887G>A (p.Ala963Thr) single nucleotide variant not specified [RCV004226237] Chr10:102368746 [GRCh38]
Chr10:104128503 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4675C>T (p.Arg1559Cys) single nucleotide variant not specified [RCV004131894] Chr10:102379550 [GRCh38]
Chr10:104139307 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5392C>T (p.Pro1798Ser) single nucleotide variant not specified [RCV004163617] Chr10:102382145 [GRCh38]
Chr10:104141902 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.314C>T (p.Thr105Ile) single nucleotide variant not specified [RCV004124182] Chr10:102351274 [GRCh38]
Chr10:104111031 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2173A>G (p.Lys725Glu) single nucleotide variant not specified [RCV004073600] Chr10:102365463 [GRCh38]
Chr10:104125220 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5056C>T (p.His1686Tyr) single nucleotide variant not specified [RCV004239344] Chr10:102380569 [GRCh38]
Chr10:104140326 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4332C>A (p.Asp1444Glu) single nucleotide variant not specified [RCV004176409] Chr10:102376978 [GRCh38]
Chr10:104136735 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.562A>G (p.Met188Val) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004820938]|not specified [RCV004194037] Chr10:102352496 [GRCh38]
Chr10:104112253 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4187C>T (p.Ser1396Leu) single nucleotide variant not specified [RCV004155159] Chr10:102376699 [GRCh38]
Chr10:104136456 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3604G>T (p.Val1202Leu) single nucleotide variant not specified [RCV004187015] Chr10:102370804 [GRCh38]
Chr10:104130561 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.959C>A (p.Ala320Asp) single nucleotide variant not specified [RCV004134568] Chr10:102358677 [GRCh38]
Chr10:104118434 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.771G>A (p.Arg257=) single nucleotide variant not provided [RCV003091531] Chr10:102230652 [GRCh38]
Chr10:103990409 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.14T>C (p.Leu5Pro) single nucleotide variant Inborn genetic diseases [RCV002723285] Chr10:102232067 [GRCh38]
Chr10:103991824 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5455C>T (p.Gln1819Ter) single nucleotide variant not provided [RCV002607572] Chr10:102382208 [GRCh38]
Chr10:104141965 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1847T>C (p.Ile616Thr) single nucleotide variant not specified [RCV004273713] Chr10:102362635 [GRCh38]
Chr10:104122392 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3560G>A (p.Cys1187Tyr) single nucleotide variant not specified [RCV004276814] Chr10:102370760 [GRCh38]
Chr10:104130517 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3500A>C (p.Glu1167Ala) single nucleotide variant not specified [RCV004248850] Chr10:102370472 [GRCh38]
Chr10:104130229 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1558G>C (p.Glu520Gln) single nucleotide variant not specified [RCV004268905] Chr10:102361784 [GRCh38]
Chr10:104121541 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5393C>T (p.Pro1798Leu) single nucleotide variant not specified [RCV004257958] Chr10:102382146 [GRCh38]
Chr10:104141903 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter) single nucleotide variant not provided [RCV003322244] Chr10:102259011 [GRCh38]
Chr10:104018768 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.740C>T (p.Ala247Val) single nucleotide variant Inborn genetic diseases [RCV003345860] Chr10:102230683 [GRCh38]
Chr10:103990440 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.234G>A (p.Glu78=) single nucleotide variant not provided [RCV003422834] Chr10:102231675 [GRCh38]
Chr10:103991432 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.185A>G (p.Gln62Arg) single nucleotide variant not provided [RCV003874069] Chr10:102231724 [GRCh38]
Chr10:103991481 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.32C>T (p.Ala11Val) single nucleotide variant not provided [RCV003873951] Chr10:102232049 [GRCh38]
Chr10:103991806 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3677G>A (p.Arg1226His) single nucleotide variant not provided [RCV003481991] Chr10:102375375 [GRCh38]
Chr10:104135132 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.684G>T (p.Lys228Asn) single nucleotide variant not provided [RCV003481990]|not specified [RCV004364843] Chr10:102358083 [GRCh38]
Chr10:104117840 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.991C>T (p.Pro331Ser) single nucleotide variant GBF1-related disorder [RCV003404227]|not provided [RCV004790555] Chr10:102358709 [GRCh38]
Chr10:104118466 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2358C>T (p.Tyr786=) single nucleotide variant not provided [RCV003422835] Chr10:102366431 [GRCh38]
Chr10:104126188 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.3461C>T (p.Ala1154Val) single nucleotide variant GBF1-related disorder [RCV003405947] Chr10:102370433 [GRCh38]
Chr10:104130190 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1621A>C (p.Ile541Leu) single nucleotide variant not provided [RCV003692196] Chr10:102361847 [GRCh38]
Chr10:104121604 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.669C>T (p.Pro223=) single nucleotide variant not provided [RCV003821417] Chr10:102230754 [GRCh38]
Chr10:103990511 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.759C>T (p.Pro253=) single nucleotide variant PITX3-related disorder [RCV003949803] Chr10:102230664 [GRCh38]
Chr10:103990421 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.483T>G (p.Leu161=) single nucleotide variant PITX3-related disorder [RCV003901416] Chr10:102230940 [GRCh38]
Chr10:103990697 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.713G>A (p.Arg238His) single nucleotide variant not specified [RCV004395228] Chr10:102358112 [GRCh38]
Chr10:104117869 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2426G>A (p.Arg809His) single nucleotide variant not provided [RCV004810671]|not specified [RCV004395218] Chr10:102366499 [GRCh38]
Chr10:104126256 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.1331T>G (p.Val444Gly) single nucleotide variant not specified [RCV004395211] Chr10:102360334 [GRCh38]
Chr10:104120091 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4309C>T (p.Arg1437Cys) single nucleotide variant not specified [RCV004395225] Chr10:102376955 [GRCh38]
Chr10:104136712 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2204C>T (p.Thr735Ile) single nucleotide variant not specified [RCV004395215] Chr10:102365494 [GRCh38]
Chr10:104125251 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2276G>A (p.Arg759His) single nucleotide variant not specified [RCV004395216] Chr10:102365566 [GRCh38]
Chr10:104125323 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3283C>T (p.Arg1095Trp) single nucleotide variant not specified [RCV004395221] Chr10:102369928 [GRCh38]
Chr10:104129685 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3628C>T (p.Arg1210Trp) single nucleotide variant not specified [RCV004395223] Chr10:102370828 [GRCh38]
Chr10:104130585 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1759G>C (p.Asp587His) single nucleotide variant not specified [RCV004395212] Chr10:102362547 [GRCh38]
Chr10:104122304 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2819C>T (p.Ser940Phe) single nucleotide variant not specified [RCV004395220] Chr10:102368394 [GRCh38]
Chr10:104128151 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5350G>A (p.Gly1784Arg) single nucleotide variant not provided [RCV004555069] Chr10:102382103 [GRCh38]
Chr10:104141860 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4494C>T (p.Asp1498=) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004586385] Chr10:102377140 [GRCh38]
Chr10:104136897 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1924A>G (p.Ile642Val) single nucleotide variant not specified [RCV004395214] Chr10:102363303 [GRCh38]
Chr10:104123060 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2420C>A (p.Thr807Lys) single nucleotide variant not specified [RCV004395217] Chr10:102366493 [GRCh38]
Chr10:104126250 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3998T>C (p.Ile1333Thr) single nucleotide variant not specified [RCV004395224] Chr10:102376383 [GRCh38]
Chr10:104136140 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3596G>A (p.Arg1199Gln) single nucleotide variant not specified [RCV004634628] Chr10:102370796 [GRCh38]
Chr10:104130553 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4684C>T (p.Arg1562Trp) single nucleotide variant not specified [RCV004634635] Chr10:102379559 [GRCh38]
Chr10:104139316 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3966G>T (p.Glu1322Asp) single nucleotide variant not specified [RCV004634636] Chr10:102376351 [GRCh38]
Chr10:104136108 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1964C>T (p.Pro655Leu) single nucleotide variant not specified [RCV004634639] Chr10:102363343 [GRCh38]
Chr10:104123100 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.68A>G (p.Asn23Ser) single nucleotide variant not specified [RCV004634646] Chr10:102259006 [GRCh38]
Chr10:104018763 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1079A>T (p.Glu360Val) single nucleotide variant not specified [RCV004395210] Chr10:102359334 [GRCh38]
Chr10:104119091 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2723G>A (p.Gly908Asp) single nucleotide variant not specified [RCV004395219] Chr10:102368298 [GRCh38]
Chr10:104128055 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3314A>G (p.Lys1105Arg) single nucleotide variant not specified [RCV004395222] Chr10:102369959 [GRCh38]
Chr10:104129716 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4450G>A (p.Val1484Met) single nucleotide variant not specified [RCV004395226] Chr10:102377096 [GRCh38]
Chr10:104136853 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4979C>T (p.Ser1660Phe) single nucleotide variant not specified [RCV004395227] Chr10:102380349 [GRCh38]
Chr10:104140106 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.890C>T (p.Ser297Phe) single nucleotide variant not specified [RCV004395229] Chr10:102358608 [GRCh38]
Chr10:104118365 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5437C>T (p.Pro1813Ser) single nucleotide variant not specified [RCV004634623] Chr10:102382190 [GRCh38]
Chr10:104141947 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5176C>G (p.Pro1726Ala) single nucleotide variant not specified [RCV004634624] Chr10:102381129 [GRCh38]
Chr10:104140886 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4966A>G (p.Met1656Val) single nucleotide variant not specified [RCV004634632] Chr10:102380336 [GRCh38]
Chr10:104140093 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3989C>T (p.Pro1330Leu) single nucleotide variant not specified [RCV004634637] Chr10:102376374 [GRCh38]
Chr10:104136131 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4709A>C (p.Gln1570Pro) single nucleotide variant not specified [RCV004634630] Chr10:102379584 [GRCh38]
Chr10:104139341 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5216C>T (p.Ser1739Leu) single nucleotide variant not specified [RCV004634633] Chr10:102381169 [GRCh38]
Chr10:104140926 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3014A>G (p.Lys1005Arg) single nucleotide variant not provided [RCV004697641] Chr10:102369251 [GRCh38]
Chr10:104129008 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2527G>C (p.Val843Leu) single nucleotide variant not specified [RCV004634641] Chr10:102367178 [GRCh38]
Chr10:104126935 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.923A>G (p.Asp308Gly) single nucleotide variant not specified [RCV004634642] Chr10:102358641 [GRCh38]
Chr10:104118398 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3761A>G (p.Asn1254Ser) single nucleotide variant not specified [RCV004634625] Chr10:102375459 [GRCh38]
Chr10:104135216 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1936C>T (p.His646Tyr) single nucleotide variant not specified [RCV004634631] Chr10:102363315 [GRCh38]
Chr10:104123072 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1213A>C (p.Ile405Leu) single nucleotide variant not specified [RCV004634638] Chr10:102360216 [GRCh38]
Chr10:104119973 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.469C>T (p.Pro157Ser) single nucleotide variant Inborn genetic diseases [RCV004648331] Chr10:102230954 [GRCh38]
Chr10:103990711 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5353T>C (p.Ser1785Pro) single nucleotide variant not specified [RCV004634629] Chr10:102382106 [GRCh38]
Chr10:104141863 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.719T>C (p.Met240Thr) single nucleotide variant not provided [RCV004810813] Chr10:102358118 [GRCh38]
Chr10:104117875 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.1421A>G (p.Tyr474Cys) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004701246] Chr10:102361050 [GRCh38]
Chr10:104120807 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3886G>A (p.Gly1296Arg) single nucleotide variant not provided [RCV004722652] Chr10:102375584 [GRCh38]
Chr10:104135341 [GRCh37]
Chr10:10q24.32
uncertain significance
Single allele deletion See cases [RCV004727573] Chr10:102837530..105033440 [GRCh37]
Chr10:10q24.31-24.33
pathogenic
NM_005029.4(PITX3):c.697G>A (p.Gly233Arg) single nucleotide variant Inborn genetic diseases [RCV004961880] Chr10:102230726 [GRCh38]
Chr10:103990483 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.367A>T (p.Ser123Cys) single nucleotide variant not provided [RCV005154478] Chr10:102231056 [GRCh38]
Chr10:103990813 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.321+14A>C single nucleotide variant not provided [RCV005182858] Chr10:102231574 [GRCh38]
Chr10:103991331 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.1186G>C (p.Ala396Pro) single nucleotide variant not specified [RCV004925144] Chr10:102360189 [GRCh38]
Chr10:104119946 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2530C>T (p.Arg844Cys) single nucleotide variant not specified [RCV004924511] Chr10:102367181 [GRCh38]
Chr10:104126938 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5304C>G (p.Asp1768Glu) single nucleotide variant not specified [RCV004924512] Chr10:102382057 [GRCh38]
Chr10:104141814 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5068G>C (p.Ala1690Pro) single nucleotide variant not specified [RCV004924513] Chr10:102380581 [GRCh38]
Chr10:104140338 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4564C>G (p.Arg1522Gly) single nucleotide variant not specified [RCV004924514] Chr10:102379353 [GRCh38]
Chr10:104139110 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3700A>G (p.Ser1234Gly) single nucleotide variant not specified [RCV004924515] Chr10:102375398 [GRCh38]
Chr10:104135155 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3889G>T (p.Ala1297Ser) single nucleotide variant not specified [RCV004924516] Chr10:102376274 [GRCh38]
Chr10:104136031 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.725A>G (p.Lys242Arg) single nucleotide variant not specified [RCV004925145] Chr10:102358124 [GRCh38]
Chr10:104117881 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.106C>T (p.Arg36Trp) single nucleotide variant not specified [RCV004925146] Chr10:102260059 [GRCh38]
Chr10:104019816 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2827T>A (p.Phe943Ile) single nucleotide variant not specified [RCV004924509] Chr10:102368402 [GRCh38]
Chr10:104128159 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.74G>A (p.Arg25Gln) single nucleotide variant not specified [RCV004925148] Chr10:102259012 [GRCh38]
Chr10:104018769 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1543C>G (p.Pro515Ala) single nucleotide variant not specified [RCV004925149] Chr10:102361769 [GRCh38]
Chr10:104121526 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.472T>C (p.Cys158Arg) single nucleotide variant not specified [RCV004925150] Chr10:102351900 [GRCh38]
Chr10:104111657 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4464C>T (p.Tyr1488=) single nucleotide variant not specified [RCV005239891] Chr10:102377110 [GRCh38]
Chr10:104136867 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.1379G>A (p.Arg460His) single nucleotide variant not specified [RCV005238574] Chr10:102360382 [GRCh38]
Chr10:104120139 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.1591C>T (p.Arg531Cys) single nucleotide variant not provided [RCV005245190] Chr10:102361817 [GRCh38]
Chr10:104121574 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.5296G>A (p.Ala1766Thr) single nucleotide variant not provided [RCV005243675] Chr10:102381249 [GRCh38]
Chr10:104141006 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.4045G>A (p.Val1349Met) single nucleotide variant not provided [RCV005244551] Chr10:102376430 [GRCh38]
Chr10:104136187 [GRCh37]
Chr10:10q24.32
likely benign
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_001377137.1(GBF1):c.4200= (p.Ile1400=) variation not provided [RCV000964629] Chr10:102376712 [GRCh38]
Chr10:104136469 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.83C>G (p.Thr28Ser) single nucleotide variant not specified [RCV004315863] Chr10:102259021 [GRCh38]
Chr10:104018778 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2749C>T (p.Arg917Cys) single nucleotide variant not specified [RCV004291698] Chr10:102368324 [GRCh38]
Chr10:104128081 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.322-132C>G single nucleotide variant not provided [RCV001593948] Chr10:102231233 [GRCh38]
Chr10:103990990 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.321+142C>G single nucleotide variant not provided [RCV001642003] Chr10:102231446 [GRCh38]
Chr10:103991203 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730754]|Motor axonal neuropathy [RCV001250272] Chr10:102370728 [GRCh38]
Chr10:104130485 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730755]|Motor axonal neuropathy [RCV001251623] Chr10:102370385 [GRCh38]
Chr10:104130142 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_005029.4(PITX3):c.650del (p.Gly217fs) deletion Cataract 11, posterior polar [RCV000043531]|Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities [RCV000043534] Chr10:102230773 [GRCh38]
Chr10:103990530 [GRCh37]
Chr10:10q24.32
pathogenic
NM_005029.4(PITX3):c.285C>A (p.Ile95=) single nucleotide variant not provided [RCV000830831] Chr10:102231624 [GRCh38]
Chr10:103991381 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter) single nucleotide variant PITX3-related disorder [RCV004731029]|not provided [RCV000760543] Chr10:102230661 [GRCh38]
Chr10:103990418 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_005029.4(PITX3):c.448G>T (p.Gly150Cys) single nucleotide variant not provided [RCV001338728] Chr10:102230975 [GRCh38]
Chr10:103990732 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.414G>T (p.Gly138=) single nucleotide variant not provided [RCV001363185] Chr10:102231009 [GRCh38]
Chr10:103990766 [GRCh37]
Chr10:10q24.32
likely benign|uncertain significance
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) single nucleotide variant Cataract 11 multiple types [RCV000007351]|not provided [RCV005243096] Chr10:102232043 [GRCh38]
Chr10:103991800 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_001377137.1(GBF1):c.129C>T (p.Phe43=) single nucleotide variant not specified [RCV005236920] Chr10:102260082 [GRCh38]
Chr10:104019839 [GRCh37]
Chr10:10q24.32
benign
NM_005029.4(PITX3):c.397T>C (p.Phe133Leu) single nucleotide variant Inborn genetic diseases [RCV004040128]|not provided [RCV001766995] Chr10:102231026 [GRCh38]
Chr10:103990783 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs) deletion Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002498076]|not provided [RCV002034117] Chr10:102368307..102368308 [GRCh38]
Chr10:104128064..104128065 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.218G>T (p.Arg73Leu) single nucleotide variant not provided [RCV001976846] Chr10:102344105 [GRCh38]
Chr10:104103862 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.636_637dup (p.Gly213fs) duplication not provided [RCV001951039] Chr10:102230785..102230786 [GRCh38]
Chr10:103990542..103990543 [GRCh37]
Chr10:10q24.32
pathogenic
NM_001377137.1(GBF1):c.3604G>A (p.Val1202Met) single nucleotide variant not provided [RCV003121741] Chr10:102370804 [GRCh38]
Chr10:104130561 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002273266] Chr10:102382254 [GRCh38]
Chr10:104142011 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5294G>C (p.Gly1765Ala) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002267560] Chr10:102381247 [GRCh38]
Chr10:104141004 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1006C>T (p.Leu336Phe) single nucleotide variant not specified [RCV004218877] Chr10:102358724 [GRCh38]
Chr10:104118481 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.758A>G (p.Asn253Ser) single nucleotide variant not specified [RCV004086493] Chr10:102358157 [GRCh38]
Chr10:104117914 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2027A>T (p.Lys676Met) single nucleotide variant not specified [RCV004129070] Chr10:102363719 [GRCh38]
Chr10:104123476 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.699G>A (p.Gly233=) single nucleotide variant not provided [RCV002998740] Chr10:102230724 [GRCh38]
Chr10:103990481 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.1866A>T (p.Glu622Asp) single nucleotide variant not specified [RCV004098924] Chr10:102362654 [GRCh38]
Chr10:104122411 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3412G>A (p.Ala1138Thr) single nucleotide variant not specified [RCV004240633] Chr10:102370384 [GRCh38]
Chr10:104130141 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.764C>T (p.Thr255Ile) single nucleotide variant not specified [RCV004143574] Chr10:102358163 [GRCh38]
Chr10:104117920 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3073C>T (p.Arg1025Trp) single nucleotide variant not specified [RCV004179954] Chr10:102369310 [GRCh38]
Chr10:104129067 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4307A>G (p.Lys1436Arg) single nucleotide variant not specified [RCV004236671] Chr10:102376953 [GRCh38]
Chr10:104136710 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5136C>A (p.His1712Gln) single nucleotide variant not specified [RCV004239666] Chr10:102380649 [GRCh38]
Chr10:104140406 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.824C>T (p.Ser275Phe) single nucleotide variant not specified [RCV004130414] Chr10:102358542 [GRCh38]
Chr10:104118299 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1805C>G (p.Thr602Ser) single nucleotide variant not specified [RCV004202272] Chr10:102362593 [GRCh38]
Chr10:104122350 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.677C>T (p.Ala226Val) single nucleotide variant Inborn genetic diseases [RCV002983958] Chr10:102230746 [GRCh38]
Chr10:103990503 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3545A>T (p.His1182Leu) single nucleotide variant not specified [RCV004201616] Chr10:102370745 [GRCh38]
Chr10:104130502 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.958G>T (p.Ala320Ser) single nucleotide variant not specified [RCV004134567] Chr10:102358676 [GRCh38]
Chr10:104118433 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1955G>A (p.Arg652Gln) single nucleotide variant not specified [RCV004220416] Chr10:102363334 [GRCh38]
Chr10:104123091 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2225G>A (p.Arg742Gln) single nucleotide variant not specified [RCV004087962] Chr10:102365515 [GRCh38]
Chr10:104125272 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.322-11C>G single nucleotide variant not provided [RCV002612012] Chr10:102231112 [GRCh38]
Chr10:103990869 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.181A>C (p.Lys61Gln) single nucleotide variant not provided [RCV003134928] Chr10:102231728 [GRCh38]
Chr10:103991485 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5160G>C (p.Gln1720His) single nucleotide variant not specified [RCV004271763] Chr10:102380673 [GRCh38]
Chr10:104140430 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1199A>G (p.Tyr400Cys) single nucleotide variant not specified [RCV004271936] Chr10:102360202 [GRCh38]
Chr10:104119959 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5546G>A (p.Arg1849His) single nucleotide variant not specified [RCV004255772] Chr10:102382299 [GRCh38]
Chr10:104142056 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3056G>A (p.Arg1019His) single nucleotide variant not specified [RCV004250161] Chr10:102369293 [GRCh38]
Chr10:104129050 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4738A>G (p.Lys1580Glu) single nucleotide variant not specified [RCV004272907] Chr10:102379613 [GRCh38]
Chr10:104139370 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4607G>A (p.Arg1536His) single nucleotide variant not specified [RCV004277270] Chr10:102379396 [GRCh38]
Chr10:104139153 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_001377137.1(GBF1):c.1774C>G (p.His592Asp) single nucleotide variant not specified [RCV004359893] Chr10:102362562 [GRCh38]
Chr10:104122319 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.661G>A (p.Gly221Ser) single nucleotide variant not provided [RCV003725923] Chr10:102230762 [GRCh38]
Chr10:103990519 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.441G>T (p.Val147=) single nucleotide variant not provided [RCV003690271] Chr10:102230982 [GRCh38]
Chr10:103990739 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.703G>A (p.Val235Met) single nucleotide variant Inborn genetic diseases [RCV004961289]|PITX3-related disorder [RCV003419104]|not provided [RCV003708796] Chr10:102230720 [GRCh38]
Chr10:103990477 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5184C>T (p.Pro1728=) single nucleotide variant not provided [RCV003456721] Chr10:102381137 [GRCh38]
Chr10:104140894 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV003558976] Chr10:102230837 [GRCh38]
Chr10:103990594 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.520A>G (p.Ser174Gly) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV005208321] Chr10:102351948 [GRCh38]
Chr10:104111705 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_005029.4(PITX3):c.662G>C (p.Gly221Ala) single nucleotide variant not provided [RCV003885204] Chr10:102230761 [GRCh38]
Chr10:103990518 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3499G>A (p.Glu1167Lys) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV003990599] Chr10:102370471 [GRCh38]
Chr10:104130228 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.677C>A (p.Ala226Asp) single nucleotide variant Inborn genetic diseases [RCV004506225] Chr10:102230746 [GRCh38]
Chr10:103990503 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.464A>G (p.Asn155Ser) single nucleotide variant Inborn genetic diseases [RCV004506224] Chr10:102230959 [GRCh38]
Chr10:103990716 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.269G>C (p.Ser90Thr) single nucleotide variant Inborn genetic diseases [RCV004506222] Chr10:102231640 [GRCh38]
Chr10:103991397 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.114C>A (p.His38Gln) single nucleotide variant Inborn genetic diseases [RCV004506221] Chr10:102231967 [GRCh38]
Chr10:103991724 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.556G>C (p.Val186Leu) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004556026] Chr10:102352490 [GRCh38]
Chr10:104112247 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2899G>A (p.Ala967Thr) single nucleotide variant not specified [RCV004634627] Chr10:102368758 [GRCh38]
Chr10:104128515 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4073C>G (p.Ser1358Cys) single nucleotide variant not specified [RCV004634643] Chr10:102376585 [GRCh38]
Chr10:104136342 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5508C>G (p.Ile1836Met) single nucleotide variant not specified [RCV004634645] Chr10:102382261 [GRCh38]
Chr10:104142018 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.707C>T (p.Pro236Leu) single nucleotide variant not specified [RCV004623844] Chr10:102358106 [GRCh38]
Chr10:104117863 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5407C>T (p.Pro1803Ser) single nucleotide variant not specified [RCV004623845] Chr10:102382160 [GRCh38]
Chr10:104141917 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.32C>A (p.Ala11Asp) single nucleotide variant Inborn genetic diseases [RCV004648333] Chr10:102232049 [GRCh38]
Chr10:103991806 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1112C>T (p.Ala371Val) single nucleotide variant not specified [RCV004634640] Chr10:102359367 [GRCh38]
Chr10:104119124 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1408C>T (p.Arg470Ter) single nucleotide variant not provided [RCV004793292] Chr10:102361037 [GRCh38]
Chr10:104120794 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1973G>A (p.Gly658Glu) single nucleotide variant not provided [RCV004793293] Chr10:102363352 [GRCh38]
Chr10:104123109 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4414C>T (p.Arg1472Trp) single nucleotide variant not provided [RCV004793294] Chr10:102377060 [GRCh38]
Chr10:104136817 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1840T>C (p.Cys614Arg) single nucleotide variant not provided [RCV004810043] Chr10:102362628 [GRCh38]
Chr10:104122385 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.738C>T (p.Ala246=) single nucleotide variant PITX3-related disorder [RCV004756768] Chr10:102230685 [GRCh38]
Chr10:103990442 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.630A>C (p.Pro210=) single nucleotide variant PITX3-related disorder [RCV004757073] Chr10:102230793 [GRCh38]
Chr10:103990550 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.456G>T (p.Ser152=) single nucleotide variant PITX3-related disorder [RCV004756802] Chr10:102230967 [GRCh38]
Chr10:103990724 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.669del (p.Leu225fs) deletion not provided [RCV004719441] Chr10:102230754 [GRCh38]
Chr10:103990511 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.613G>A (p.Ala205Thr) single nucleotide variant Inborn genetic diseases [RCV004961881] Chr10:102230810 [GRCh38]
Chr10:103990567 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.436G>A (p.Glu146Lys) single nucleotide variant Inborn genetic diseases [RCV004961882] Chr10:102230987 [GRCh38]
Chr10:103990744 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.726CGC[4] (p.Ala250del) microsatellite not provided [RCV005113215] Chr10:102230683..102230685 [GRCh38]
Chr10:103990440..103990442 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3875C>G (p.Ala1292Gly) single nucleotide variant not specified [RCV004924507] Chr10:102375573 [GRCh38]
Chr10:104135330 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2822A>T (p.Tyr941Phe) single nucleotide variant not specified [RCV004924508] Chr10:102368397 [GRCh38]
Chr10:104128154 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4420G>A (p.Gly1474Arg) single nucleotide variant not specified [RCV004924510] Chr10:102377066 [GRCh38]
Chr10:104136823 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5294G>A (p.Gly1765Glu) single nucleotide variant not specified [RCV004925147] Chr10:102381247 [GRCh38]
Chr10:104141004 [GRCh37]
Chr10:10q24.32
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:505
Count of miRNA genes:399
Interacting mature miRNAs:427
Transcripts:ENST00000369983, ENST00000476019
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597168536GWAS1264610_Halkaline phosphatase measurement QTL GWAS1264610 (human)2e-58alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)10102232661102232662Human
407051843GWAS700819_Htriacylglycerol 58:9 measurement QTL GWAS700819 (human)0.0000007blood triglyceride amount (VT:0002644)10102265653102265654Human
597151895GWAS1247969_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS1247969 (human)2e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)10102331339102331340Human
597077268GWAS1173342_Hintelligence QTL GWAS1173342 (human)2e-13intelligence10102364848102364849Human
597051024GWAS1147098_HParkinson disease QTL GWAS1147098 (human)1e-09Parkinson disease10102255522102255523Human
597058064GWAS1154138_Hintelligence QTL GWAS1154138 (human)4e-12intelligence10102364848102364849Human
597346064GWAS1442138_Hcannabis dependence QTL GWAS1442138 (human)1e-08cannabis dependence10102320061102320062Human
597055001GWAS1151075_Hintelligence QTL GWAS1151075 (human)2e-11intelligence10102364848102364849Human
597422868GWAS1518942_Hatrial fibrillation QTL GWAS1518942 (human)1e-12atrial fibrillation10102380845102380846Human
597080966GWAS1177040_Hlymphocyte percentage of leukocytes QTL GWAS1177040 (human)2e-09lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)10102301461102301462Human
597026695GWAS1122769_Hbody mass index QTL GWAS1122769 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)10102261784102261785Human
597115012GWAS1211086_Hcognitive function measurement QTL GWAS1211086 (human)6e-16cognitive behavior trait (VT:0010450)10102322931102322932Human
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597058062GWAS1154136_Hintelligence QTL GWAS1154136 (human)6e-14intelligence10102274330102274331Human
597058063GWAS1154137_Hintelligence QTL GWAS1154137 (human)8e-10intelligence10102312216102312217Human
597211267GWAS1307341_Hmathematical ability QTL GWAS1307341 (human)2e-23mathematical ability10102261328102261329Human
597157431GWAS1253505_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1253505 (human)2e-10cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)10102331339102331340Human
597225530GWAS1321604_Hself reported educational attainment QTL GWAS1321604 (human)7e-28self reported educational attainment10102261328102261329Human
597407673GWAS1503747_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1503747 (human)2e-09cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)10102358877102358878Human
597108771GWAS1204845_Hself reported educational attainment QTL GWAS1204845 (human)7e-33self reported educational attainment10102261328102261329Human
597054498GWAS1150572_Hhousehold income QTL GWAS1150572 (human)1e-12household income10102364848102364849Human
597156907GWAS1252981_Hsex hormone-binding globulin measurement QTL GWAS1252981 (human)6e-08sex hormone-binding globulin measurement10102232661102232662Human
407123072GWAS772048_Hmean corpuscular hemoglobin QTL GWAS772048 (human)3e-15mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)10102284277102284278Human
597109331GWAS1205405_Hmathematical ability QTL GWAS1205405 (human)8e-14mathematical ability10102321592102321593Human
407039111GWAS688087_HQT interval QTL GWAS688087 (human)3e-08QT intervalQT interval (CMO:0000235)10102290249102290250Human
597288543GWAS1384617_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1384617 (human)2e-09phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)10102347434102347435Human
597097304GWAS1193378_Hsex hormone-binding globulin measurement QTL GWAS1193378 (human)1e-08sex hormone-binding globulin measurement10102232661102232662Human
597158470GWAS1254544_Hsex hormone-binding globulin measurement QTL GWAS1254544 (human)7e-08sex hormone-binding globulin measurement10102232661102232662Human
597280459GWAS1376533_HQT interval QTL GWAS1376533 (human)3e-22QT intervalQT interval (CMO:0000235)10102321592102321593Human
597191104GWAS1287178_HParkinson disease QTL GWAS1287178 (human)0.000003Parkinson disease10102255522102255523Human
597053646GWAS1149720_Hhousehold income QTL GWAS1149720 (human)2e-08household income10102297931102297932Human
597098702GWAS1194776_Hbody mass index QTL GWAS1194776 (human)9e-10body mass indexbody mass index (BMI) (CMO:0000105)10102261784102261785Human
597503300GWAS1599374_Htriglyceride measurement QTL GWAS1599374 (human)7e-20triglyceride measurementblood triglyceride level (CMO:0000118)10102382537102382538Human
406954013GWAS602989_Hself reported educational attainment QTL GWAS602989 (human)2e-08self reported educational attainment10102364298102364299Human
597105609GWAS1201683_Hsex hormone-binding globulin measurement QTL GWAS1201683 (human)1e-11sex hormone-binding globulin measurement10102232661102232662Human
597109367GWAS1205441_Hmathematical ability QTL GWAS1205441 (human)6e-10mathematical ability10102321592102321593Human
597409145GWAS1505219_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1505219 (human)1e-09cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)10102358877102358878Human
597056883GWAS1152957_Hintelligence QTL GWAS1152957 (human)2e-10cognitive behavior trait (VT:0010450)10102322931102322932Human
597165170GWAS1261244_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1261244 (human)1e-08low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)10102331339102331340Human
597086845GWAS1182919_Hlymphocyte count QTL GWAS1182919 (human)9e-10lymphocyte countblood lymphocyte count (CMO:0000031)10102301461102301462Human
597343857GWAS1439931_Hopioid use disorder QTL GWAS1439931 (human)3e-08conditioned place preference behavior trait (VT:0010723)10102320061102320062Human
597318902GWAS1414976_HJT interval QTL GWAS1414976 (human)2e-17heart electrical impulse conduction trait (VT:2000017)heart electrical conduction measurement (CMO:0000230)10102300772102300773Human
597146488GWAS1242562_Hphotoreceptor cell layer thickness measurement QTL GWAS1242562 (human)3e-08photoreceptor cell layer thickness measurement10102274793102274794Human
597421290GWAS1517364_Hsystolic blood pressure QTL GWAS1517364 (human)5e-09systolic blood pressuresystolic blood pressure (CMO:0000004)10102307476102307477Human
597075557GWAS1171631_Hintelligence QTL GWAS1171631 (human)9e-10intelligence10102312216102312217Human
597346159GWAS1442233_Hepilepsy QTL GWAS1442233 (human)5e-08brain integrity trait (VT:0010579)10102279217102279218Human
597334636GWAS1430710_Heducational attainment QTL GWAS1430710 (human)5e-09educational attainment10102265959102265960Human
597345132GWAS1441206_Hsmoking initiation QTL GWAS1441206 (human)1e-09smoking initiation10102320061102320062Human
597439082GWAS1535156_Hgrip strength measurement QTL GWAS1535156 (human)1e-09grip strength measurement10102367414102367415Human
597275617GWAS1371691_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1371691 (human)3e-13attention deficit hyperactivity disorder, autism spectrum disorder, intelligence10102274330102274331Human
597113838GWAS1209912_HQT interval QTL GWAS1209912 (human)0.000006QT intervalQT interval (CMO:0000235)10102290249102290250Human
597618276GWAS1675136_Hdigestive system disease QTL GWAS1675136 (human)2e-11digestive system disease10102313277102313278Human
597275619GWAS1371693_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1371693 (human)2e-09attention deficit hyperactivity disorder, autism spectrum disorder, intelligence10102322931102322932Human
597417185GWAS1513259_Hsmoking status measurement QTL GWAS1513259 (human)5e-08smoking status measurement10102360765102360766Human
597275618GWAS1371692_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1371692 (human)2e-08attention deficit hyperactivity disorder, autism spectrum disorder, intelligence10102312216102312217Human
597275620GWAS1371694_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS1371694 (human)1e-10attention deficit hyperactivity disorder, autism spectrum disorder, intelligence10102364848102364849Human
597076585GWAS1172659_HParkinson disease QTL GWAS1172659 (human)0.0000002Parkinson disease10102245653102245654Human
597075561GWAS1171635_Hintelligence QTL GWAS1171635 (human)4e-09intelligence10102322931102322932Human

Markers in Region
AFM183xb12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,064,797 - 104,065,055UniSTSGRCh37
Build 3610104,054,787 - 104,055,045RGDNCBI36
Celera1097,805,699 - 97,805,951RGD
Cytogenetic Map10q24UniSTS
HuRef1097,697,596 - 97,697,848UniSTS
Whitehead-RH Map10575.5UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH45663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,049,434 - 104,049,556UniSTSGRCh37
Build 3610104,039,424 - 104,039,546RGDNCBI36
Celera1097,790,338 - 97,790,460RGD
Cytogenetic Map10q24UniSTS
HuRef1097,682,234 - 97,682,356UniSTS
GeneMap99-GB4 RH Map10486.99UniSTS
RH80779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,142,095 - 104,142,293UniSTSGRCh37
Build 3610104,132,085 - 104,132,283RGDNCBI36
Celera1097,882,994 - 97,883,192RGD
Cytogenetic Map10q24UniSTS
HuRef1097,774,904 - 97,775,102UniSTS
GeneMap99-GB4 RH Map10486.26UniSTS
RH80701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,142,410 - 104,142,595UniSTSGRCh37
Build 3610104,132,400 - 104,132,585RGDNCBI36
Celera1097,883,309 - 97,883,494RGD
Cytogenetic Map10q24UniSTS
HuRef1097,775,219 - 97,775,404UniSTS
GeneMap99-GB4 RH Map10478.15UniSTS
RH44977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,067,759 - 104,067,864UniSTSGRCh37
Build 3610104,057,749 - 104,057,854RGDNCBI36
Celera1097,808,655 - 97,808,760RGD
Cytogenetic Map10q24UniSTS
HuRef1097,700,552 - 97,700,657UniSTS
GeneMap99-GB4 RH Map10482.26UniSTS
NCBI RH Map101105.5UniSTS
GBF1__6792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,141,975 - 104,142,655UniSTSGRCh37
Build 3610104,131,965 - 104,132,645RGDNCBI36
Celera1097,882,874 - 97,883,554RGD
HuRef1097,774,784 - 97,775,464UniSTS
RH44262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,142,449 - 104,142,589UniSTSGRCh37
Build 3610104,132,439 - 104,132,579RGDNCBI36
Celera1097,883,348 - 97,883,488RGD
Cytogenetic Map10q24UniSTS
HuRef1097,775,258 - 97,775,398UniSTS
GeneMap99-GB4 RH Map10478.66UniSTS
RH44724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,088,054 - 104,088,241UniSTSGRCh37
Build 3610104,078,044 - 104,078,231RGDNCBI36
Celera1097,828,950 - 97,829,137RGD
Cytogenetic Map10q24UniSTS
HuRef1097,720,848 - 97,721,035UniSTS
GeneMap99-GB4 RH Map10486.99UniSTS
AFMa301wf1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,036,527 - 104,036,776UniSTSGRCh37
Build 3610104,026,517 - 104,026,766RGDNCBI36
Celera1097,777,439 - 97,777,688RGD
Cytogenetic Map10q24UniSTS
HuRef1097,669,338 - 97,669,587UniSTS
Whitehead-RH Map10567.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF068755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI859700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA176540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA772398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000369983   ⟹   ENSP00000359000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,532 - 102,382,896 (+)Ensembl
Ensembl Acc Id: ENST00000476019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,359,099 - 102,361,187 (+)Ensembl
Ensembl Acc Id: ENST00000673650   ⟹   ENSP00000501233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000674034   ⟹   ENSP00000501064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,532 - 102,382,899 (+)Ensembl
Ensembl Acc Id: ENST00000676474   ⟹   ENSP00000503988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676482   ⟹   ENSP00000503160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676513   ⟹   ENSP00000503207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676558   ⟹   ENSP00000502942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,272 - 102,377,140 (+)Ensembl
Ensembl Acc Id: ENST00000676560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
Ensembl Acc Id: ENST00000676561   ⟹   ENSP00000504119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676606   ⟹   ENSP00000504111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676673   ⟹   ENSP00000504200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676682   ⟹   ENSP00000503097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676735   ⟹   ENSP00000504811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Ensembl Acc Id: ENST00000676802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,381,010 - 102,381,255 (+)Ensembl
Ensembl Acc Id: ENST00000676807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
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Type: CODING
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Type: CODING
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Human AssemblyChrPosition (strand)Source
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Type: CODING
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Human AssemblyChrPosition (strand)Source
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Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,362,475 - 102,367,210 (+)Ensembl
Ensembl Acc Id: ENST00000679280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
Ensembl Acc Id: ENST00000679288   ⟹   ENSP00000503966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,853 - 102,381,255 (+)Ensembl
Ensembl Acc Id: ENST00000679298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,478 - 102,367,872 (+)Ensembl
Ensembl Acc Id: ENST00000679305   ⟹   ENSP00000503919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,365,397 - 102,368,454 (+)Ensembl
Ensembl Acc Id: ENST00000679317   ⟹   ENSP00000503609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,380,249 - 102,381,255 (+)Ensembl
RefSeq Acc Id: NM_001199378   ⟹   NP_001186307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
GRCh3710104,005,255 - 104,142,656 (+)NCBI
HuRef1097,637,542 - 97,775,465 (+)ENTREZGENE
CHM1_110104,288,779 - 104,426,082 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199379   ⟹   NP_001186308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
GRCh3710104,005,255 - 104,142,656 (+)ENTREZGENE
HuRef1097,637,542 - 97,775,465 (+)ENTREZGENE
CHM1_110104,288,779 - 104,426,082 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377137   ⟹   NP_001364066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377138   ⟹   NP_001364067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377139   ⟹   NP_001364068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377140   ⟹   NP_001364069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377141   ⟹   NP_001364070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391922   ⟹   NP_001378851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391923   ⟹   NP_001378852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,230,643 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391924   ⟹   NP_001378853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,230,643 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391925   ⟹   NP_001378854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391926   ⟹   NP_001378855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391927   ⟹   NP_001378856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391928   ⟹   NP_001378857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391929   ⟹   NP_001378858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391930   ⟹   NP_001378859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391931   ⟹   NP_001378860
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001411003   ⟹   NP_001397932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: NM_001411027   ⟹   NP_001397956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: NM_004193   ⟹   NP_004184
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
GRCh3710104,005,255 - 104,142,656 (+)ENTREZGENE
Build 3610103,995,299 - 104,132,639 (+)NCBI Archive
HuRef1097,637,542 - 97,775,465 (+)ENTREZGENE
CHM1_110104,288,779 - 104,426,082 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165085
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165086
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165087
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165088
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165089
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718047   ⟹   XP_006718110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718049   ⟹   XP_006718112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540312   ⟹   XP_011538614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540313   ⟹   XP_011538615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,379,933 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540314   ⟹   XP_011538616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,359,273 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016861   ⟹   XP_016872350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425969   ⟹   XP_047281925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425970   ⟹   XP_047281926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425971   ⟹   XP_047281927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425972   ⟹   XP_047281928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425973   ⟹   XP_047281929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425974   ⟹   XP_047281930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425975   ⟹   XP_047281931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,332,503 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_054367057   ⟹   XP_054223032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367058   ⟹   XP_054223033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367059   ⟹   XP_054223034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367060   ⟹   XP_054223035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367061   ⟹   XP_054223036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367062   ⟹   XP_054223037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367063   ⟹   XP_054223038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367064   ⟹   XP_054223039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367065   ⟹   XP_054223040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367066   ⟹   XP_054223041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367067   ⟹   XP_054223042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,217,476 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367068   ⟹   XP_054223043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,264,883 (+)NCBI
RefSeq Acc Id: XM_054367069   ⟹   XP_054223044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,244,254 - 103,267,847 (+)NCBI
RefSeq Acc Id: XR_001747253
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,370,477 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008488306
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,255,458 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001186307 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186308 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378851 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378853 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378854 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378857 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378858 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378859 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378860 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397932 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397956 (Get FASTA)   NCBI Sequence Viewer  
  NP_004184 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718110 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718112 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538614 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538615 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538616 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872350 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281925 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281926 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281928 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223033 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223044 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD15903 (Get FASTA)   NCBI Sequence Viewer  
  AAH07941 (Get FASTA)   NCBI Sequence Viewer  
  AAH14171 (Get FASTA)   NCBI Sequence Viewer  
  AAH32543 (Get FASTA)   NCBI Sequence Viewer  
  AAH94763 (Get FASTA)   NCBI Sequence Viewer  
  AAI17682 (Get FASTA)   NCBI Sequence Viewer  
  AAI17683 (Get FASTA)   NCBI Sequence Viewer  
  BAA13379 (Get FASTA)   NCBI Sequence Viewer  
  EAW49707 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359000
  ENSP00000359000.4
  ENSP00000501064
  ENSP00000501233
  ENSP00000502877
  ENSP00000502966
  ENSP00000503207
  ENSP00000503207.1
  ENSP00000503428
  ENSP00000503428.1
  ENSP00000503565
  ENSP00000503918
  ENSP00000503918.1
  ENSP00000503981
  ENSP00000503981.1
  ENSP00000504214
GenBank Protein Q92538 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001186307   ⟸   NM_001199378
- Peptide Label: isoform 2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004184   ⟸   NM_004193
- Peptide Label: isoform 1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186308   ⟸   NM_001199379
- Peptide Label: isoform 3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718110   ⟸   XM_006718047
- Peptide Label: isoform X1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718112   ⟸   XM_006718049
- Peptide Label: isoform X2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538614   ⟸   XM_011540312
- Peptide Label: isoform X5
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538615   ⟸   XM_011540313
- Peptide Label: isoform X12
- UniProtKB: A0A7I2V4K2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538616   ⟸   XM_011540314
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016872350   ⟸   XM_017016861
- Peptide Label: isoform X3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364070   ⟸   NM_001377141
- Peptide Label: isoform 1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364066   ⟸   NM_001377137
- Peptide Label: isoform 4
- UniProtKB: Q9H473 (UniProtKB/Swiss-Prot),   Q96HZ3 (UniProtKB/Swiss-Prot),   Q96CK6 (UniProtKB/Swiss-Prot),   Q92538 (UniProtKB/Swiss-Prot),   Q5VXX3 (UniProtKB/Swiss-Prot),   Q149P1 (UniProtKB/Swiss-Prot),   Q149P0 (UniProtKB/Swiss-Prot),   A0A7P0RGV0 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364067   ⟸   NM_001377138
- Peptide Label: isoform 5
- UniProtKB: A0A7I2V452 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364068   ⟸   NM_001377139
- Peptide Label: isoform 6
- UniProtKB: A0A7I2V2L5 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364069   ⟸   NM_001377140
- Peptide Label: isoform 7
- UniProtKB: A0A7I2YQ65 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000501233   ⟸   ENST00000673650
Ensembl Acc Id: ENSP00000501064   ⟸   ENST00000674034
Ensembl Acc Id: ENSP00000359000   ⟸   ENST00000369983
Ensembl Acc Id: ENSP00000503918   ⟸   ENST00000676993
Ensembl Acc Id: ENSP00000504793   ⟸   ENST00000676985
Ensembl Acc Id: ENSP00000504243   ⟸   ENST00000676927
Ensembl Acc Id: ENSP00000503225   ⟸   ENST00000676934
Ensembl Acc Id: ENSP00000503981   ⟸   ENST00000676939
Ensembl Acc Id: ENSP00000504175   ⟸   ENST00000676900
Ensembl Acc Id: ENSP00000503391   ⟸   ENST00000676877
Ensembl Acc Id: ENSP00000503311   ⟸   ENST00000676861
Ensembl Acc Id: ENSP00000503195   ⟸   ENST00000676854
Ensembl Acc Id: ENSP00000504811   ⟸   ENST00000676735
Ensembl Acc Id: ENSP00000504111   ⟸   ENST00000676606
Ensembl Acc Id: ENSP00000503097   ⟸   ENST00000676682
Ensembl Acc Id: ENSP00000504200   ⟸   ENST00000676673
Ensembl Acc Id: ENSP00000503207   ⟸   ENST00000676513
Ensembl Acc Id: ENSP00000504119   ⟸   ENST00000676561
Ensembl Acc Id: ENSP00000502942   ⟸   ENST00000676558
Ensembl Acc Id: ENSP00000503988   ⟸   ENST00000676474
Ensembl Acc Id: ENSP00000503160   ⟸   ENST00000676482
Ensembl Acc Id: ENSP00000502850   ⟸   ENST00000677100
Ensembl Acc Id: ENSP00000504632   ⟸   ENST00000677017
Ensembl Acc Id: ENSP00000503557   ⟸   ENST00000677098
Ensembl Acc Id: ENSP00000503784   ⟸   ENST00000677504
Ensembl Acc Id: ENSP00000504669   ⟸   ENST00000677522
Ensembl Acc Id: ENSP00000504695   ⟸   ENST00000677491
Ensembl Acc Id: ENSP00000503357   ⟸   ENST00000677461
Ensembl Acc Id: ENSP00000503565   ⟸   ENST00000677439
Ensembl Acc Id: ENSP00000504013   ⟸   ENST00000677247
Ensembl Acc Id: ENSP00000504136   ⟸   ENST00000677269
Ensembl Acc Id: ENSP00000503428   ⟸   ENST00000677240
Ensembl Acc Id: ENSP00000504014   ⟸   ENST00000677947
Ensembl Acc Id: ENSP00000503597   ⟸   ENST00000677917
Ensembl Acc Id: ENSP00000502897   ⟸   ENST00000677842
Ensembl Acc Id: ENSP00000504372   ⟸   ENST00000677871
Ensembl Acc Id: ENSP00000503137   ⟸   ENST00000677838
Ensembl Acc Id: ENSP00000503380   ⟸   ENST00000677719
Ensembl Acc Id: ENSP00000504549   ⟸   ENST00000677776
Ensembl Acc Id: ENSP00000502896   ⟸   ENST00000677797
Ensembl Acc Id: ENSP00000502877   ⟸   ENST00000677618
Ensembl Acc Id: ENSP00000504307   ⟸   ENST00000677627
Ensembl Acc Id: ENSP00000503042   ⟸   ENST00000677683
Ensembl Acc Id: ENSP00000504432   ⟸   ENST00000677655
Ensembl Acc Id: ENSP00000504116   ⟸   ENST00000677642
Ensembl Acc Id: ENSP00000503788   ⟸   ENST00000677662
Ensembl Acc Id: ENSP00000504256   ⟸   ENST00000678014
Ensembl Acc Id: ENSP00000502947   ⟸   ENST00000678036
Ensembl Acc Id: ENSP00000503172   ⟸   ENST00000678007
Ensembl Acc Id: ENSP00000504117   ⟸   ENST00000678453
Ensembl Acc Id: ENSP00000503655   ⟸   ENST00000678476
Ensembl Acc Id: ENSP00000504485   ⟸   ENST00000678426
Ensembl Acc Id: ENSP00000503346   ⟸   ENST00000678344
Ensembl Acc Id: ENSP00000502966   ⟸   ENST00000678351
Ensembl Acc Id: ENSP00000503165   ⟸   ENST00000678319
Ensembl Acc Id: ENSP00000504021   ⟸   ENST00000678292
Ensembl Acc Id: ENSP00000504689   ⟸   ENST00000678293
Ensembl Acc Id: ENSP00000503048   ⟸   ENST00000678215
Ensembl Acc Id: ENSP00000503288   ⟸   ENST00000678126
Ensembl Acc Id: ENSP00000504207   ⟸   ENST00000678127
Ensembl Acc Id: ENSP00000503984   ⟸   ENST00000678806
Ensembl Acc Id: ENSP00000503508   ⟸   ENST00000678722
Ensembl Acc Id: ENSP00000504556   ⟸   ENST00000678742
Ensembl Acc Id: ENSP00000502953   ⟸   ENST00000678604
Ensembl Acc Id: ENSP00000503928   ⟸   ENST00000678665
Ensembl Acc Id: ENSP00000503764   ⟸   ENST00000678575
Ensembl Acc Id: ENSP00000504832   ⟸   ENST00000678530
Ensembl Acc Id: ENSP00000504437   ⟸   ENST00000678571
Ensembl Acc Id: ENSP00000504700   ⟸   ENST00000678558
Ensembl Acc Id: ENSP00000503983   ⟸   ENST00000678504
Ensembl Acc Id: ENSP00000504189   ⟸   ENST00000678527
Ensembl Acc Id: ENSP00000503272   ⟸   ENST00000678924
Ensembl Acc Id: ENSP00000503266   ⟸   ENST00000678923
Ensembl Acc Id: ENSP00000503609   ⟸   ENST00000679317
Ensembl Acc Id: ENSP00000503919   ⟸   ENST00000679305
Ensembl Acc Id: ENSP00000504214   ⟸   ENST00000679238
Ensembl Acc Id: ENSP00000503103   ⟸   ENST00000679253
Ensembl Acc Id: ENSP00000504092   ⟸   ENST00000679203
Ensembl Acc Id: ENSP00000503966   ⟸   ENST00000679288
Ensembl Acc Id: ENSP00000503451   ⟸   ENST00000679139
Ensembl Acc Id: ENSP00000503529   ⟸   ENST00000679155
Ensembl Acc Id: ENSP00000503220   ⟸   ENST00000679186
Ensembl Acc Id: ENSP00000503054   ⟸   ENST00000679013
Ensembl Acc Id: ENSP00000503258   ⟸   ENST00000679080
Ensembl Acc Id: ENSP00000502906   ⟸   ENST00000679084
Ensembl Acc Id: ENSP00000503230   ⟸   ENST00000679087
Ensembl Acc Id: ENSP00000503189   ⟸   ENST00000679093
Ensembl Acc Id: ENSP00000504631   ⟸   ENST00000679040
RefSeq Acc Id: NP_001378853   ⟸   NM_001391924
- Peptide Label: isoform 3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378852   ⟸   NM_001391923
- Peptide Label: isoform 2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378851   ⟸   NM_001391922
- Peptide Label: isoform 8
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378855   ⟸   NM_001391926
- Peptide Label: isoform 10
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378856   ⟸   NM_001391927
- Peptide Label: isoform 11
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378859   ⟸   NM_001391930
- Peptide Label: isoform 14
- UniProtKB: A0A7I2V514 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378858   ⟸   NM_001391929
- Peptide Label: isoform 13
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378857   ⟸   NM_001391928
- Peptide Label: isoform 12
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378854   ⟸   NM_001391925
- Peptide Label: isoform 9
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378860   ⟸   NM_001391931
- Peptide Label: isoform 15
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281926   ⟸   XM_047425970
- Peptide Label: isoform X6
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281927   ⟸   XM_047425971
- Peptide Label: isoform X7
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281925   ⟸   XM_047425969
- Peptide Label: isoform X4
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281928   ⟸   XM_047425972
- Peptide Label: isoform X8
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281930   ⟸   XM_047425974
- Peptide Label: isoform X10
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281929   ⟸   XM_047425973
- Peptide Label: isoform X9
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281931   ⟸   XM_047425975
- Peptide Label: isoform X11
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397956   ⟸   NM_001411027
- Peptide Label: isoform 17
- UniProtKB: A0A669KBG8 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397932   ⟸   NM_001411003
- Peptide Label: isoform 16
- UniProtKB: A0A669KB10 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223032   ⟸   XM_054367057
- Peptide Label: isoform X1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223033   ⟸   XM_054367058
- Peptide Label: isoform X2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223036   ⟸   XM_054367061
- Peptide Label: isoform X5
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223037   ⟸   XM_054367062
- Peptide Label: isoform X6
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223038   ⟸   XM_054367063
- Peptide Label: isoform X7
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223034   ⟸   XM_054367059
- Peptide Label: isoform X3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223035   ⟸   XM_054367060
- Peptide Label: isoform X4
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223039   ⟸   XM_054367064
- Peptide Label: isoform X8
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223041   ⟸   XM_054367066
- Peptide Label: isoform X10
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223040   ⟸   XM_054367065
- Peptide Label: isoform X9
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223043   ⟸   XM_054367068
- Peptide Label: isoform X12
- UniProtKB: A0A7I2V4K2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223042   ⟸   XM_054367067
- Peptide Label: isoform X11
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223044   ⟸   XM_054367069
- Peptide Label: isoform X13
Protein Domains
Mon2/Sec7/BIG1-like HUS   SEC7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92538-F1-model_v2 AlphaFold Q92538 1-1859 view protein structure

Promoters
RGD ID:7218507
Promoter ID:EPDNEW_H14999
Type:initiation region
Name:GBF1_1
Description:golgi brefeldin A resistant guanine nucleotide exchange factor1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,245,592EPDNEW
RGD ID:6787733
Promoter ID:HG_KWN:10970
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:OTTHUMT00000050051,   UC001KUV.1,   UC001KUW.2,   UC001KUY.1,   UC001KUZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,994,406 - 103,995,367 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4181 AgrOrtholog
COSMIC GBF1 COSMIC
Ensembl Genes ENSG00000107862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369983 ENTREZGENE
  ENST00000369983.5 UniProtKB/Swiss-Prot
  ENST00000673650 ENTREZGENE
  ENST00000674034 ENTREZGENE
  ENST00000676513 ENTREZGENE
  ENST00000676513.1 UniProtKB/Swiss-Prot
  ENST00000676682 ENTREZGENE
  ENST00000676807 ENTREZGENE
  ENST00000676939 ENTREZGENE
  ENST00000676939.1 UniProtKB/Swiss-Prot
  ENST00000676993 ENTREZGENE
  ENST00000676993.1 UniProtKB/Swiss-Prot
  ENST00000677240 ENTREZGENE
  ENST00000677240.1 UniProtKB/Swiss-Prot
  ENST00000677439 ENTREZGENE
  ENST00000677618 ENTREZGENE
  ENST00000677655 ENTREZGENE
  ENST00000678351 ENTREZGENE
  ENST00000679155 ENTREZGENE
  ENST00000679238 ENTREZGENE
Gene3D-CATH 1.10.1000.11 UniProtKB/Swiss-Prot
  1.10.220.20 UniProtKB/Swiss-Prot
GTEx ENSG00000107862 GTEx
HGNC ID HGNC:4181 ENTREZGENE
Human Proteome Map GBF1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot
  Sec7_C_sf UniProtKB/Swiss-Prot
  Sec7_dom UniProtKB/Swiss-Prot
  Sec7_dom_sf UniProtKB/Swiss-Prot
  Sec7_N UniProtKB/Swiss-Prot
KEGG Report hsa:8729 UniProtKB/Swiss-Prot
NCBI Gene 8729 ENTREZGENE
OMIM 603698 OMIM
PANTHER GOLGI-SPECIFIC BREFELDIN A-RESISTANCE GUANINE NUCLEOTIDE EXCHANGE FACTOR 1 UniProtKB/Swiss-Prot
  GUANYL-NUCLEOTIDE EXCHANGE FACTOR UniProtKB/Swiss-Prot
Pfam Sec7 UniProtKB/Swiss-Prot
  Sec7_N UniProtKB/Swiss-Prot
PharmGKB GBF1 RGD, PharmGKB
PROSITE SEC7 UniProtKB/Swiss-Prot
SMART Sec7 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
  SSF48425 UniProtKB/Swiss-Prot
UniProt A0A669KB10 ENTREZGENE, UniProtKB/TrEMBL
  A0A669KBG8 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2F8_HUMAN UniProtKB/TrEMBL
  A0A7I2V2G6_HUMAN UniProtKB/TrEMBL
  A0A7I2V2I0_HUMAN UniProtKB/TrEMBL
  A0A7I2V2L1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2L4_HUMAN UniProtKB/TrEMBL
  A0A7I2V2L5 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2Q1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Q5_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Q6_HUMAN UniProtKB/TrEMBL
  A0A7I2V2U1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Y7_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Z8_HUMAN UniProtKB/TrEMBL
  A0A7I2V300_HUMAN UniProtKB/TrEMBL
  A0A7I2V305_HUMAN UniProtKB/TrEMBL
  A0A7I2V306_HUMAN UniProtKB/TrEMBL
  A0A7I2V329_HUMAN UniProtKB/TrEMBL
  A0A7I2V336_HUMAN UniProtKB/TrEMBL
  A0A7I2V338_HUMAN UniProtKB/TrEMBL
  A0A7I2V342_HUMAN UniProtKB/TrEMBL
  A0A7I2V350_HUMAN UniProtKB/TrEMBL
  A0A7I2V3A8_HUMAN UniProtKB/TrEMBL
  A0A7I2V3B1_HUMAN UniProtKB/TrEMBL
  A0A7I2V3E5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3H2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3J0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Q4_HUMAN UniProtKB/TrEMBL
  A0A7I2V3R2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3S0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Y5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Y7_HUMAN UniProtKB/TrEMBL
  A0A7I2V452 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V470_HUMAN UniProtKB/TrEMBL
  A0A7I2V489_HUMAN UniProtKB/TrEMBL
  A0A7I2V4E0_HUMAN UniProtKB/TrEMBL
  A0A7I2V4F1_HUMAN UniProtKB/TrEMBL
  A0A7I2V4F9_HUMAN UniProtKB/TrEMBL
  A0A7I2V4H1_HUMAN UniProtKB/TrEMBL
  A0A7I2V4K2 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4L8_HUMAN UniProtKB/TrEMBL
  A0A7I2V4M3_HUMAN UniProtKB/TrEMBL
  A0A7I2V4M6_HUMAN UniProtKB/TrEMBL
  A0A7I2V4N5_HUMAN UniProtKB/TrEMBL
  A0A7I2V4N7_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Q7_HUMAN UniProtKB/TrEMBL
  A0A7I2V4V3_HUMAN UniProtKB/TrEMBL
  A0A7I2V4V8_HUMAN UniProtKB/TrEMBL
  A0A7I2V4W6_HUMAN UniProtKB/TrEMBL
  A0A7I2V4X4_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Z4_HUMAN UniProtKB/TrEMBL
  A0A7I2V514 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V528_HUMAN UniProtKB/TrEMBL
  A0A7I2V529_HUMAN UniProtKB/TrEMBL
  A0A7I2V541_HUMAN UniProtKB/TrEMBL
  A0A7I2V578_HUMAN UniProtKB/TrEMBL
  A0A7I2V5C9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5I9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5S3_HUMAN UniProtKB/TrEMBL
  A0A7I2V5T8_HUMAN UniProtKB/TrEMBL
  A0A7I2V5V9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5W2_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Z1_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Z2_HUMAN UniProtKB/TrEMBL
  A0A7I2V622_HUMAN UniProtKB/TrEMBL
  A0A7I2V662_HUMAN UniProtKB/TrEMBL
  A0A7I2V6D0_HUMAN UniProtKB/TrEMBL
  A0A7I2V6G3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQ62_HUMAN UniProtKB/TrEMBL
  A0A7I2YQ65 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2YQ79_HUMAN UniProtKB/TrEMBL
  A0A7I2YQA6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQB8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQC3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQC6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQD3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQE0_HUMAN UniProtKB/TrEMBL
  A0A7I2YQJ5_HUMAN UniProtKB/TrEMBL
  A0A7I2YQM0_HUMAN UniProtKB/TrEMBL
  A0A7I2YQM2 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2YQN3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQN6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQP6_HUMAN UniProtKB/TrEMBL
  A0A7P0RGV0 ENTREZGENE
  GBF1_HUMAN UniProtKB/Swiss-Prot
  Q05BW6_HUMAN UniProtKB/TrEMBL
  Q149P0 ENTREZGENE
  Q149P1 ENTREZGENE
  Q504U7_HUMAN UniProtKB/TrEMBL
  Q5VXX3 ENTREZGENE
  Q92538 ENTREZGENE
  Q96CK6 ENTREZGENE
  Q96HZ3 ENTREZGENE
  Q9H473 ENTREZGENE
UniProt Secondary A0A7P0RGV0 UniProtKB/Swiss-Prot
  Q149P0 UniProtKB/Swiss-Prot
  Q149P1 UniProtKB/Swiss-Prot
  Q5VXX3 UniProtKB/Swiss-Prot
  Q96CK6 UniProtKB/Swiss-Prot
  Q96HZ3 UniProtKB/Swiss-Prot
  Q9H473 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 GBF1  golgi brefeldin A resistant guanine nucleotide exchange factor 1  GBF1  golgi brefeldin A resistant guanine nucleotide exchange factor 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 GBF1  golgi brefeldin A resistant guanine nucleotide exchange factor 1  GBF1  golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1  Symbol and/or name change 5135510 APPROVED