RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1) - Rat Genome Database

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Gene: RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1) Homo sapiens
Analyze
Symbol: RAB3GAP1
Name: RAB3 GTPase activating protein catalytic subunit 1
RGD ID: 1604828
HGNC Page HGNC
Description: Enables GTPase activator activity and small GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in several processes, including establishment of protein localization to endoplasmic reticulum membrane; face morphogenesis; and positive regulation of organelle organization. Acts upstream of or within lipid droplet organization. Located in Golgi apparatus; endoplasmic reticulum tubular network; and lipid droplet. Part of protein-containing complex. Implicated in Warburg micro syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp434A012; KIAA0066; MARTS2; P130; RAB3 GTPase activating protein subunit 1 (catalytic); RAB3 GTPase-activating protein 130 kDa subunit; rab3 GTPase-activating protein catalytic subunit; rab3-GAP p130; RAB3GAP; RAB3GAP130; WARBM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2135,052,292 - 135,176,394 (+)EnsemblGRCh38hg38GRCh38
GRCh382135,052,281 - 135,176,667 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,809,862 - 135,928,280 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362135,526,323 - 135,644,029 (+)NCBINCBI36hg18NCBI36
Celera2129,522,764 - 129,641,200 (+)NCBI
Cytogenetic Map2q21.3NCBI
HuRef2127,801,500 - 127,920,838 (+)NCBIHuRef
CHM1_12135,814,735 - 135,933,197 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dermatoglyphics  (IAGP)
Abnormal distal phalanx morphology of finger  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the antihelix  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachycephaly  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Clitoral hypoplasia  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed puberty  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Everted lower lip vermilion  (IAGP)
External genital hypoplasia  (IAGP)
Facial hypertrichosis  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Furrowed tongue  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Low posterior hairline  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Optic atrophy  (IAGP)
Osteoporosis  (IAGP)
Overlapping toe  (IAGP)
Pachygyria  (IAGP)
Peripheral neuropathy  (IAGP)
Prematurely aged appearance  (IAGP)
Ptosis  (IAGP)
Retinal coloboma  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Spastic diplegia  (IAGP)
Spasticity  (IAGP)
Tooth malposition  (IAGP)
Ulnar deviation of finger  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:7584044   PMID:8249951   PMID:9030515   PMID:9733780   PMID:9852129   PMID:10532171   PMID:10859313   PMID:12477932   PMID:12786944   PMID:14593078   PMID:14702039   PMID:15489334  
PMID:15696165   PMID:16344560   PMID:16484223   PMID:16923123   PMID:17081983   PMID:17567985   PMID:18029348   PMID:18286824   PMID:19056867   PMID:19077034   PMID:20512159   PMID:20562859  
PMID:20686565   PMID:21873635   PMID:21979947   PMID:22337587   PMID:22768674   PMID:22863883   PMID:22876574   PMID:22990118   PMID:23176487   PMID:23383273   PMID:23420520   PMID:23593153  
PMID:23833071   PMID:24097068   PMID:24239381   PMID:24816252   PMID:24885147   PMID:24891604   PMID:25159528   PMID:25332050   PMID:25495476   PMID:25544563   PMID:25612670   PMID:25921289  
PMID:26063829   PMID:26138576   PMID:26186194   PMID:26344197   PMID:26421802   PMID:26638075   PMID:26760575   PMID:26972000   PMID:27256633   PMID:28342870   PMID:28378594   PMID:28514442  
PMID:28575017   PMID:28656962   PMID:29117863   PMID:29300443   PMID:29395067   PMID:29467282   PMID:29568061   PMID:29955894   PMID:29987913   PMID:30021884   PMID:30730599   PMID:30833792  
PMID:31006538   PMID:31056421   PMID:31073040   PMID:31182584   PMID:31732153   PMID:32062451   PMID:32694731   PMID:32877691   PMID:33001583   PMID:33187986   PMID:33306828   PMID:33910511  
PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
RAB3GAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2135,052,292 - 135,176,394 (+)EnsemblGRCh38hg38GRCh38
GRCh382135,052,281 - 135,176,667 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,809,862 - 135,928,280 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362135,526,323 - 135,644,029 (+)NCBINCBI36hg18NCBI36
Celera2129,522,764 - 129,641,200 (+)NCBI
Cytogenetic Map2q21.3NCBI
HuRef2127,801,500 - 127,920,838 (+)NCBIHuRef
CHM1_12135,814,735 - 135,933,197 (+)NCBICHM1_1
Rab3gap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391127,796,492 - 127,871,613 (+)NCBIGRCm39mm39
GRCm39 Ensembl1127,796,510 - 127,871,605 (+)Ensembl
GRCm381127,868,755 - 127,943,876 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1127,868,773 - 127,943,868 (+)EnsemblGRCm38mm10GRCm38
MGSCv371129,765,350 - 129,840,453 (+)NCBIGRCm37mm9NCBIm37
MGSCv361129,696,338 - 129,771,414 (+)NCBImm8
Celera1130,509,898 - 130,572,512 (+)NCBICelera
Cytogenetic Map1E3NCBI
Rab3gap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21339,355,698 - 39,429,154 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1344,615,553 - 44,648,620 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01344,578,208 - 44,649,876 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01349,662,265 - 49,734,485 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41340,594,232 - 40,636,723 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1339,730,571 - 39,803,671 (+)NCBICelera
Cytogenetic Map13q13NCBI
Rab3gap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554402,550,982 - 2,646,331 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554402,551,015 - 2,645,938 (+)NCBIChiLan1.0ChiLan1.0
RAB3GAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B139,125,374 - 139,248,010 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B139,125,375 - 139,242,721 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B24,692,363 - 24,810,685 (-)NCBIMhudiblu_PPA_v0panPan3
RAB3GAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11937,861,844 - 38,006,433 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1937,861,804 - 37,963,501 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1938,101,848 - 38,250,489 (+)NCBI
ROS_Cfam_1.01939,307,155 - 39,452,060 (+)NCBI
UMICH_Zoey_3.11937,949,574 - 38,094,207 (+)NCBI
UNSW_CanFamBas_1.01938,110,488 - 38,255,025 (+)NCBI
UU_Cfam_GSD_1.01939,345,841 - 39,490,314 (+)NCBI
Rab3gap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303100,889,929 - 100,975,780 (+)NCBI
SpeTri2.0NW_00493646940,642,240 - 40,727,831 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB3GAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1516,753,877 - 16,816,754 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11516,756,368 - 16,893,148 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21519,210,946 - 19,269,571 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAB3GAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11019,295,294 - 19,401,595 (+)NCBI
ChlSab1.1 Ensembl1019,295,351 - 19,402,212 (+)Ensembl
Vero_WHO_p1.0NW_0236660613,097,933 - 3,204,848 (-)NCBI
Rab3gap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473234,450,616 - 34,593,675 (+)NCBI

Position Markers
G16390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,812,015 - 135,812,165UniSTSGRCh37
Build 362135,528,485 - 135,528,635RGDNCBI36
Celera2129,524,944 - 129,525,094RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,803,680 - 127,803,830UniSTS
A008U03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,927,990 - 135,928,098UniSTSGRCh37
Build 362135,644,460 - 135,644,568RGDNCBI36
Celera2129,640,910 - 129,641,018RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,920,548 - 127,920,656UniSTS
GeneMap99-GB4 RH Map2472.72UniSTS
D2S2871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,927,396 - 135,927,538UniSTSGRCh37
Build 362135,643,866 - 135,644,008RGDNCBI36
Celera2129,640,316 - 129,640,458RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,919,954 - 127,920,096UniSTS
Stanford-G3 RH Map25546.0UniSTS
NCBI RH Map21038.5UniSTS
GeneMap99-G3 RH Map26459.0UniSTS
WI-17012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,928,124 - 135,928,273UniSTSGRCh37
Build 362135,644,594 - 135,644,743RGDNCBI36
Celera2129,641,044 - 129,641,193RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,920,682 - 127,920,831UniSTS
GeneMap99-GB4 RH Map2480.23UniSTS
Whitehead-RH Map2748.1UniSTS
NCBI RH Map21038.5UniSTS
SHGC-31260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,927,104 - 135,927,228UniSTSGRCh37
Build 362135,643,574 - 135,643,698RGDNCBI36
Celera2129,640,024 - 129,640,148RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,919,662 - 127,919,786UniSTS
Stanford-G3 RH Map25553.0UniSTS
GeneMap99-GB4 RH Map2480.76UniSTS
Whitehead-RH Map2748.1UniSTS
NCBI RH Map21038.5UniSTS
GeneMap99-G3 RH Map26466.0UniSTS
RH67847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,927,640 - 135,927,824UniSTSGRCh37
Build 362135,644,110 - 135,644,294RGDNCBI36
Celera2129,640,560 - 129,640,744RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,920,198 - 127,920,382UniSTS
GeneMap99-GB4 RH Map2472.72UniSTS
SGC32369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,820,219 - 135,820,368UniSTSGRCh37
Build 362135,536,689 - 135,536,838RGDNCBI36
Celera2129,533,148 - 129,533,297RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,811,884 - 127,812,033UniSTS
GeneMap99-GB4 RH Map2472.72UniSTS
Whitehead-RH Map2768.9UniSTS
RH25298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,893,172 - 135,893,294UniSTSGRCh37
Build 362135,609,642 - 135,609,764RGDNCBI36
Celera2129,606,090 - 129,606,212RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,885,739 - 127,885,861UniSTS
GeneMap99-GB4 RH Map2472.72UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2095
Count of miRNA genes:942
Interacting mature miRNAs:1130
Transcripts:ENST00000264158, ENST00000425393, ENST00000442034, ENST00000487003, ENST00000489858, ENST00000497080, ENST00000539493
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2402 1986 1393 333 1229 174 4334 1973 3063 345 1450 1606 175 1 1191 2767 6 2
Low 37 1003 333 291 720 291 23 224 671 74 10 7 13 21
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB449877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC017031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP872264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA333844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264158   ⟹   ENSP00000264158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,052,292 - 135,170,710 (+)Ensembl
RefSeq Acc Id: ENST00000425393   ⟹   ENSP00000400761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,052,299 - 135,059,066 (+)Ensembl
RefSeq Acc Id: ENST00000442034   ⟹   ENSP00000411418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,052,298 - 135,169,989 (+)Ensembl
RefSeq Acc Id: ENST00000487003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,089,654 - 135,176,394 (+)Ensembl
RefSeq Acc Id: ENST00000489858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,124,080 - 135,130,705 (+)Ensembl
RefSeq Acc Id: ENST00000497080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,168,548 - 135,169,977 (+)Ensembl
RefSeq Acc Id: ENST00000539493   ⟹   ENSP00000444306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,089,855 - 135,175,590 (+)Ensembl
RefSeq Acc Id: NM_001172435   ⟹   NP_001165906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,052,292 - 135,170,710 (+)NCBI
GRCh372135,809,835 - 135,928,280 (+)ENTREZGENE
HuRef2127,801,500 - 127,920,838 (+)ENTREZGENE
CHM1_12135,814,735 - 135,933,197 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012233   ⟹   NP_036365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,052,292 - 135,170,710 (+)NCBI
GRCh372135,809,835 - 135,928,280 (+)ENTREZGENE
Build 362135,526,323 - 135,644,029 (+)NCBI Archive
HuRef2127,801,500 - 127,920,838 (+)ENTREZGENE
CHM1_12135,814,735 - 135,933,197 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510823   ⟹   XP_011509125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,052,281 - 135,175,591 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510825   ⟹   XP_011509127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,052,281 - 135,170,289 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001738674
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,052,281 - 135,176,667 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001165906   ⟸   NM_001172435
- Peptide Label: isoform 1
- UniProtKB: Q15042 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036365   ⟸   NM_012233
- Peptide Label: isoform 2
- UniProtKB: Q15042 (UniProtKB/Swiss-Prot),   B9A6J2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509125   ⟸   XM_011510823
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509127   ⟸   XM_011510825
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000400761   ⟸   ENST00000425393
RefSeq Acc Id: ENSP00000411418   ⟸   ENST00000442034
RefSeq Acc Id: ENSP00000444306   ⟸   ENST00000539493
RefSeq Acc Id: ENSP00000264158   ⟸   ENST00000264158

Promoters
RGD ID:6861634
Promoter ID:EPDNEW_H3982
Type:multiple initiation site
Name:RAB3GAP1_1
Description:RAB3 GTPase activating protein catalytic subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,052,293 - 135,052,353EPDNEW
RGD ID:6798077
Promoter ID:HG_KWN:35152
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:NM_001172435,   NM_012233,   OTTHUMT00000337516,   UC010FNG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,526,291 - 135,526,791 (+)MPROMDB
RGD ID:6811945
Promoter ID:HG_ACW:46059
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:RAB3GAP1.KAPR07,   RAB3GAP1.OAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,648,946 - 135,649,446 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) deletion Warburg micro syndrome 1 [RCV000007472] Chr2:135168632 [GRCh38]
Chr2:135926202 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.649-2A>G single nucleotide variant Warburg micro syndrome 1 [RCV000007473] Chr2:135120817 [GRCh38]
Chr2:135878387 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.748+1G>A single nucleotide variant Warburg micro syndrome 1 [RCV000007474]|not provided [RCV000578621] Chr2:135120919 [GRCh38]
Chr2:135878489 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000007475] Chr2:135150456 [GRCh38]
Chr2:135908026 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000007476] Chr2:135135743 [GRCh38]
Chr2:135893313 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000007477] Chr2:135133944 [GRCh38]
Chr2:135891514 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) indel Warburg micro syndrome 1 [RCV000007478] Chr2:135091111..135091117 [GRCh38]
Chr2:135848681..135848687 [GRCh37]
Chr2:2q21.3
pathogenic
NM_001172435.2(RAB3GAP1):c.831-1G>A single nucleotide variant not provided [RCV000722712] Chr2:135126180 [GRCh38]
Chr2:135883750 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2490+19C>T single nucleotide variant not specified [RCV000602612] Chr2:135162870 [GRCh38]
Chr2:135920440 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.899+1G>A single nucleotide variant Warburg micro syndrome 1 [RCV000087133]|not provided [RCV000520187] Chr2:135126250 [GRCh38]
Chr2:135883820 [GRCh37]
Chr2:2q21.3
pathogenic|likely pathogenic
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) duplication Warburg micro syndrome 1 [RCV000087134] Chr2:135150477..135150478 [GRCh38]
Chr2:135908047..135908048 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) single nucleotide variant Warburg micro syndrome 1 [RCV000087135] Chr2:135052463 [GRCh38]
Chr2:135810033 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) single nucleotide variant Warburg micro syndrome 1 [RCV000087136] Chr2:135052482 [GRCh38]
Chr2:135810052 [GRCh37]
Chr2:2q21.3
pathogenic
GRCh38/hg38 2q21.3(chr2:135123956-135269848)x3 copy number gain See cases [RCV000052694] Chr2:135123956..135269848 [GRCh38]
Chr2:135881526..136027418 [GRCh37]
Chr2:135597996..135743888 [NCBI36]
Chr2:2q21.3
uncertain significance
NM_001172435.1(RAB3GAP1):c.2613G>C (p.Val871=) single nucleotide variant Malignant melanoma [RCV000065077] Chr2:135164600 [GRCh38]
Chr2:135922170 [GRCh37]
Chr2:135638640 [NCBI36]
Chr2:2q21.3
not provided
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) single nucleotide variant Warburg micro syndrome 1 [RCV000267107]|not provided [RCV000118093] Chr2:135150452 [GRCh38]
Chr2:135908022 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.2(RAB3GAP1):c.-53C>G single nucleotide variant Warburg micro syndrome [RCV000278190]|not specified [RCV000118087] Chr2:135052255 [GRCh38]
Chr2:135809825 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) single nucleotide variant Warburg micro syndrome 1 [RCV000335155]|not provided [RCV000878656]|not specified [RCV000118088] Chr2:135130062 [GRCh38]
Chr2:135887632 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile) single nucleotide variant not provided [RCV000118089] Chr2:135130711 [GRCh38]
Chr2:135888281 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) single nucleotide variant Warburg micro syndrome 1 [RCV000346473]|not provided [RCV000878614]|not specified [RCV000118090] Chr2:135132983 [GRCh38]
Chr2:135890553 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) single nucleotide variant Warburg micro syndrome 1 [RCV000615374]|not provided [RCV000712888]|not specified [RCV000118091] Chr2:135135802 [GRCh38]
Chr2:135893372 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) single nucleotide variant Warburg micro syndrome 1 [RCV000361670]|not provided [RCV000878117]|not specified [RCV000118092] Chr2:135150437 [GRCh38]
Chr2:135908007 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) single nucleotide variant Warburg micro syndrome 1 [RCV000602926]|Warburg micro syndrome [RCV000356679]|not provided [RCV000712890]|not specified [RCV000118094] Chr2:135153852 [GRCh38]
Chr2:135911422 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) single nucleotide variant Warburg micro syndrome 1 [RCV000317205]|not provided [RCV000877996]|not specified [RCV000118095] Chr2:135162824 [GRCh38]
Chr2:135920394 [GRCh37]
Chr2:2q21.3
benign|likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.2904T>C (p.Phe968=) single nucleotide variant not provided [RCV000914118]|not specified [RCV000118096] Chr2:135168739 [GRCh38]
Chr2:135926309 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) single nucleotide variant Warburg micro syndrome 1 [RCV001132405]|not provided [RCV000878561]|not specified [RCV000118097] Chr2:135093688 [GRCh38]
Chr2:135851258 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) single nucleotide variant Warburg micro syndrome 1 [RCV001132406]|not provided [RCV000712893]|not specified [RCV000118098] Chr2:135120839 [GRCh38]
Chr2:135878409 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) single nucleotide variant Warburg micro syndrome 1 [RCV001132408]|not provided [RCV000877840]|not specified [RCV000118099] Chr2:135126596 [GRCh38]
Chr2:135884166 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012233.3(RAB3GAP1):c.1697A>C (p.Lys566Thr) single nucleotide variant not specified [RCV000602622] Chr2:135135706 [GRCh38]
Chr2:135893276 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.2290-17C>T single nucleotide variant not specified [RCV000176090] Chr2:135162538 [GRCh38]
Chr2:135920108 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000985082]|not provided [RCV000171306] Chr2:135130030 [GRCh38]
Chr2:135887600 [GRCh37]
Chr2:2q21.3
pathogenic|likely pathogenic
NM_012233.3(RAB3GAP1):c.2343_2347del (p.Pro782fs) deletion not provided [RCV000176089] Chr2:135162606..135162610 [GRCh38]
Chr2:135920176..135920180 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.520C>T (p.Arg174Ter) single nucleotide variant Warburg micro syndrome 1 [RCV001292931] Chr2:135115253 [GRCh38]
Chr2:135872823 [GRCh37]
Chr2:2q21.3
pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1
pathogenic
GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3 copy number gain See cases [RCV000139468] Chr2:134950277..135611818 [GRCh38]
Chr2:135707847..136369388 [GRCh37]
Chr2:135424317..136085858 [NCBI36]
Chr2:2q21.3
uncertain significance
GRCh38/hg38 2q21.3(chr2:135163089-135479264)x1 copy number loss See cases [RCV000142456] Chr2:135163089..135479264 [GRCh38]
Chr2:135920659..136236834 [GRCh37]
Chr2:135637129..135953304 [NCBI36]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.816C>T (p.Cys272=) single nucleotide variant not provided [RCV000905717]|not specified [RCV000192400] Chr2:135124232 [GRCh38]
Chr2:135881802 [GRCh37]
Chr2:2q21.3
likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) single nucleotide variant Warburg micro syndrome 1 [RCV000280127]|not provided [RCV000224002]|not specified [RCV000193269] Chr2:135130027 [GRCh38]
Chr2:135887597 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012233.3(RAB3GAP1):c.2810G>A (p.Arg937Gln) single nucleotide variant not provided [RCV000766298]|not specified [RCV000193343] Chr2:135168645 [GRCh38]
Chr2:135926215 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.301A>G (p.Met101Val) single nucleotide variant not specified [RCV000194375] Chr2:135093632 [GRCh38]
Chr2:135851202 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) single nucleotide variant not provided [RCV000951669]|not specified [RCV000194946] Chr2:135164663 [GRCh38]
Chr2:135922233 [GRCh37]
Chr2:2q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) single nucleotide variant Warburg micro syndrome 1 [RCV000390556] Chr2:135135690 [GRCh38]
Chr2:135893260 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) single nucleotide variant Warburg micro syndrome 1 [RCV000403553] Chr2:135130660 [GRCh38]
Chr2:135888230 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000194301] Chr2:135164629 [GRCh38]
Chr2:135922199 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp) single nucleotide variant Warburg micro syndrome 1 [RCV000261930] Chr2:135153862 [GRCh38]
Chr2:135911432 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) single nucleotide variant Warburg micro syndrome [RCV000265083] Chr2:135113181 [GRCh38]
Chr2:135870751 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) single nucleotide variant Warburg micro syndrome 1 [RCV000267533] Chr2:135058030 [GRCh38]
Chr2:135815600 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) single nucleotide variant Warburg micro syndrome 1 [RCV000374783] Chr2:135126627 [GRCh38]
Chr2:135884197 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) single nucleotide variant Warburg micro syndrome 1 [RCV000320057]|not provided [RCV000712892]|not specified [RCV000433020] Chr2:135113199 [GRCh38]
Chr2:135870769 [GRCh37]
Chr2:2q21.3
benign|likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) single nucleotide variant Warburg micro syndrome 1 [RCV000310357]|not provided [RCV000952549] Chr2:135132965 [GRCh38]
Chr2:135890535 [GRCh37]
Chr2:2q21.3
likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) single nucleotide variant Warburg micro syndrome 1 [RCV000350147] Chr2:135130598 [GRCh38]
Chr2:135888168 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala) single nucleotide variant Warburg micro syndrome 1 [RCV000322579] Chr2:135091086 [GRCh38]
Chr2:135848656 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1378T>C single nucleotide variant Warburg micro syndrome 1 [RCV000276534] Chr2:135170159 [GRCh38]
Chr2:135927729 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.*170C>T single nucleotide variant Warburg micro syndrome 1 [RCV000276937] Chr2:135168951 [GRCh38]
Chr2:135926521 [GRCh37]
Chr2:2q21.3
likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.*1611A>T single nucleotide variant Warburg micro syndrome 1 [RCV000273113] Chr2:135170392 [GRCh38]
Chr2:135927962 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*995T>C single nucleotide variant Warburg micro syndrome 1 [RCV000355814] Chr2:135169776 [GRCh38]
Chr2:135927346 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.*283C>T single nucleotide variant Warburg micro syndrome [RCV000289126] Chr2:135169064 [GRCh38]
Chr2:135926634 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1077T>C single nucleotide variant Warburg micro syndrome 1 [RCV000403511] Chr2:135169858 [GRCh38]
Chr2:135927428 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.*346G>A single nucleotide variant Warburg micro syndrome 1 [RCV000304265] Chr2:135169127 [GRCh38]
Chr2:135926697 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*404C>T single nucleotide variant Warburg micro syndrome 1 [RCV000340454] Chr2:135169185 [GRCh38]
Chr2:135926755 [GRCh37]
Chr2:2q21.3
benign|uncertain significance
NM_012233.3(RAB3GAP1):c.*261dup duplication Warburg micro syndrome [RCV000383435] Chr2:135169036..135169037 [GRCh38]
Chr2:135926606..135926607 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.*201T>G single nucleotide variant Warburg micro syndrome 1 [RCV000292678] Chr2:135168982 [GRCh38]
Chr2:135926552 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*303G>A single nucleotide variant Warburg micro syndrome 1 [RCV000343918] Chr2:135169084 [GRCh38]
Chr2:135926654 [GRCh37]
Chr2:2q21.3
likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.*1511G>A single nucleotide variant Warburg micro syndrome 1 [RCV000367693] Chr2:135170292 [GRCh38]
Chr2:135927862 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1693G>C single nucleotide variant Warburg micro syndrome 1 [RCV000328191] Chr2:135170474 [GRCh38]
Chr2:135928044 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*252T>G single nucleotide variant Warburg micro syndrome 1 [RCV000347626] Chr2:135169033 [GRCh38]
Chr2:135926603 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*135C>G single nucleotide variant Warburg micro syndrome 1 [RCV000371867] Chr2:135168916 [GRCh38]
Chr2:135926486 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.*1397C>T single nucleotide variant Warburg micro syndrome 1 [RCV000331594] Chr2:135170178 [GRCh38]
Chr2:135927748 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*171G>A single nucleotide variant Warburg micro syndrome 1 [RCV000331957] Chr2:135168952 [GRCh38]
Chr2:135926522 [GRCh37]
Chr2:2q21.3
benign|likely benign
NM_012233.3(RAB3GAP1):c.612del (p.Leu205fs) deletion not provided [RCV000274508] Chr2:135115345 [GRCh38]
Chr2:135872915 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.475_478del (p.Thr159fs) deletion not provided [RCV000334224] Chr2:135113263..135113266 [GRCh38]
Chr2:135870833..135870836 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1612G>A (p.Ala538Thr) single nucleotide variant not provided [RCV000267942] Chr2:135135621 [GRCh38]
Chr2:135893191 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2334_2338delinsTGCCTTGCTCG (p.His779_Leu780delinsAlaLeuLeuVal) indel not provided [RCV000489712] Chr2:135162599..135162603 [GRCh38]
Chr2:135920169..135920173 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) single nucleotide variant Warburg micro syndrome 1 [RCV001132404]|not specified [RCV000518601] Chr2:135091114 [GRCh38]
Chr2:135848684 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) single nucleotide variant Warburg micro syndrome 1 [RCV001352686]|not provided [RCV000722877] Chr2:135162847 [GRCh38]
Chr2:135920417 [GRCh37]
Chr2:2q21.3
pathogenic|uncertain significance
NM_012233.3(RAB3GAP1):c.68G>A (p.Trp23Ter) single nucleotide variant not provided [RCV000520890] Chr2:135052479 [GRCh38]
Chr2:135810049 [GRCh37]
Chr2:2q21.3
likely pathogenic
NM_001172435.1(RAB3GAP1):c.*1941G>T single nucleotide variant Warburg micro syndrome [RCV000335860] Chr2:135170722 [GRCh38]
Chr2:135928292 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.*174T>C single nucleotide variant Warburg micro syndrome 1 [RCV000386461] Chr2:135168955 [GRCh38]
Chr2:135926525 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*547A>G single nucleotide variant Warburg micro syndrome 1 [RCV000405587] Chr2:135169328 [GRCh38]
Chr2:135926898 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr) single nucleotide variant Warburg micro syndrome 1 [RCV000295483] Chr2:135130564 [GRCh38]
Chr2:135888134 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*324T>G single nucleotide variant Warburg micro syndrome 1 [RCV000407754] Chr2:135169105 [GRCh38]
Chr2:135926675 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1208del deletion Warburg micro syndrome [RCV000371117] Chr2:135169975 [GRCh38]
Chr2:135927545 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu) single nucleotide variant Warburg micro syndrome 1 [RCV000389788] Chr2:135130069 [GRCh38]
Chr2:135887639 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1208dup duplication Warburg micro syndrome [RCV000297666] Chr2:135169974..135169975 [GRCh38]
Chr2:135927544..135927545 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*985dup duplication Warburg micro syndrome [RCV000301029] Chr2:135169759..135169760 [GRCh38]
Chr2:135927329..135927330 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) single nucleotide variant Warburg micro syndrome 1 [RCV000378337] Chr2:135113160 [GRCh38]
Chr2:135870730 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) single nucleotide variant Warburg micro syndrome 1 [RCV000301886] Chr2:135153685 [GRCh38]
Chr2:135911255 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.823C>T (p.Pro275Ser) single nucleotide variant not provided [RCV000591706] Chr2:135124239 [GRCh38]
Chr2:135881809 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2491-10del deletion not specified [RCV000606400] Chr2:135162976 [GRCh38]
Chr2:135920546 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1326+1G>A single nucleotide variant not provided [RCV000599105] Chr2:135132985 [GRCh38]
Chr2:135890555 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.970dup (p.Leu324fs) duplication not provided [RCV000593377] Chr2:135126652..135126653 [GRCh38]
Chr2:135884222..135884223 [GRCh37]
Chr2:2q21.3
likely pathogenic
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) duplication Warburg micro syndrome 1 [RCV000625952] Chr2:135113216..135113217 [GRCh38]
Chr2:135870786..135870787 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs) deletion Cataract-intellectual disability-hypogonadism syndrome [RCV000656358] Chr2:135052315 [GRCh38]
Chr2:135809885 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000790401]|not provided [RCV001091553] Chr2:135135917 [GRCh38]
Chr2:135893487 [GRCh37]
Chr2:2q21.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) single nucleotide variant Warburg micro syndrome 1 [RCV001129816]|not provided [RCV000443522] Chr2:135162598 [GRCh38]
Chr2:135920168 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) single nucleotide variant Warburg micro syndrome 1 [RCV001134799]|not provided [RCV000945862]|not specified [RCV000424019] Chr2:135132926 [GRCh38]
Chr2:135890496 [GRCh37]
Chr2:2q21.3
likely benign|uncertain significance
NM_012233.3(RAB3GAP1):c.2798C>T (p.Pro933Leu) single nucleotide variant not specified [RCV000418916] Chr2:135168633 [GRCh38]
Chr2:135926203 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His) single nucleotide variant not provided [RCV000951597]|not specified [RCV000424929] Chr2:135120894 [GRCh38]
Chr2:135878464 [GRCh37]
Chr2:2q21.3
likely benign|conflicting interpretations of pathogenicity
NM_012233.3(RAB3GAP1):c.1923+13A>C single nucleotide variant not specified [RCV000439798] Chr2:135135945 [GRCh38]
Chr2:135893515 [GRCh37]
Chr2:2q21.3
likely benign
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1 copy number loss See cases [RCV000445892] Chr2:128490257..138210164 [GRCh37]
Chr2:2q14.3-22.1
pathogenic
NM_012233.3(RAB3GAP1):c.2524C>T (p.Leu842Phe) single nucleotide variant not specified [RCV000426466] Chr2:135163019 [GRCh38]
Chr2:135920589 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1499+20A>G single nucleotide variant not specified [RCV000430293] Chr2:135134053 [GRCh38]
Chr2:135891623 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.2138T>C (p.Ile713Thr) single nucleotide variant not specified [RCV000423281] Chr2:135153725 [GRCh38]
Chr2:135911295 [GRCh37]
Chr2:2q21.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_012233.3(RAB3GAP1):c.373C>T (p.Arg125Cys) single nucleotide variant not provided [RCV000485861] Chr2:135113161 [GRCh38]
Chr2:135870731 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) insertion Warburg micro syndrome 1 [RCV000500968]|not provided [RCV000486190] Chr2:135115363..135115364 [GRCh38]
Chr2:135872933..135872934 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) single nucleotide variant Warburg micro syndrome 1 [RCV000778564]|not provided [RCV000712891]|not specified [RCV000502087] Chr2:135168781 [GRCh38]
Chr2:135926351 [GRCh37]
Chr2:2q21.3
conflicting interpretations of pathogenicity|uncertain significance
NM_012233.3(RAB3GAP1):c.382G>A (p.Val128Met) single nucleotide variant not specified [RCV000504345] Chr2:135113170 [GRCh38]
Chr2:135870740 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) single nucleotide variant Warburg micro syndrome 1 [RCV001132508]|not provided [RCV000766903]|not specified [RCV000500116] Chr2:135168674 [GRCh38]
Chr2:135926244 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.43A>G (p.Thr15Ala) single nucleotide variant not specified [RCV000502517] Chr2:135052454 [GRCh38]
Chr2:135810024 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.217T>G (p.Ser73Ala) single nucleotide variant not specified [RCV000500544] Chr2:135091064 [GRCh38]
Chr2:135848634 [GRCh37]
Chr2:2q21.3
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q21.3(chr2:135887061-136251548)x1 copy number loss See cases [RCV000511072] Chr2:135887061..136251548 [GRCh37]
Chr2:2q21.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NM_012233.3(RAB3GAP1):c.2103G>A (p.Trp701Ter) single nucleotide variant not provided [RCV000578977] Chr2:135153690 [GRCh38]
Chr2:135911260 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) insertion Warburg micro syndrome 1 [RCV000656361] Chr2:135168700..135168701 [GRCh38]
Chr2:135926270..135926271 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.482+18A>G single nucleotide variant not specified [RCV000600071] Chr2:135113288 [GRCh38]
Chr2:135870858 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1471C>T (p.Arg491Ter) single nucleotide variant Inborn genetic diseases [RCV000624472]|not provided [RCV001091552] Chr2:135134005 [GRCh38]
Chr2:135891575 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1326+15A>C single nucleotide variant not specified [RCV000610001] Chr2:135132999 [GRCh38]
Chr2:135890569 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.831-14T>G single nucleotide variant not specified [RCV000610083] Chr2:135126167 [GRCh38]
Chr2:135883737 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.741A>G (p.Gln247=) single nucleotide variant not specified [RCV000616155] Chr2:135120911 [GRCh38]
Chr2:135878481 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1719A>G (p.Lys573=) single nucleotide variant not specified [RCV000616708] Chr2:135135728 [GRCh38]
Chr2:135893298 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) single nucleotide variant Warburg micro syndrome 1 [RCV000656359] Chr2:135115293 [GRCh38]
Chr2:135872863 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000656360] Chr2:135130060 [GRCh38]
Chr2:135887630 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1388_1389del (p.Cys463fs) microsatellite Inborn genetic diseases [RCV000623421] Chr2:135133919..135133920 [GRCh38]
Chr2:135891489..135891490 [GRCh37]
Chr2:2q21.3
pathogenic
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1
pathogenic
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000679853] Chr2:135132968 [GRCh38]
Chr2:135890538 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000680080] Chr2:135113257 [GRCh38]
Chr2:135870827 [GRCh37]
Chr2:2q21.3
pathogenic
NM_001172435.2(RAB3GAP1):c.18+4A>G single nucleotide variant not provided [RCV000712889] Chr2:135052329 [GRCh38]
Chr2:135809899 [GRCh37]
Chr2:2q21.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_012233.3(RAB3GAP1):c.362+10T>G single nucleotide variant not provided [RCV000896894] Chr2:135093703 [GRCh38]
Chr2:135851273 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1237-2A>G single nucleotide variant Warburg micro syndrome 1 [RCV000761455] Chr2:135132893 [GRCh38]
Chr2:135890463 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000761456] Chr2:135162986 [GRCh38]
Chr2:135920556 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.*822T>G single nucleotide variant Warburg micro syndrome 1 [RCV001134919] Chr2:135169603 [GRCh38]
Chr2:135927173 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) single nucleotide variant Warburg micro syndrome 1 [RCV000985081] Chr2:135115292 [GRCh38]
Chr2:135872862 [GRCh37]
Chr2:2q21.3
likely pathogenic
NM_012233.3(RAB3GAP1):c.1023T>C (p.Thr341=) single nucleotide variant not provided [RCV000878033] Chr2:135130044 [GRCh38]
Chr2:135887614 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.210C>T (p.Phe70=) single nucleotide variant not provided [RCV000927774] Chr2:135091057 [GRCh38]
Chr2:135848627 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.639A>G (p.Lys213=) single nucleotide variant not provided [RCV000945754] Chr2:135115372 [GRCh38]
Chr2:135872942 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.144C>T (p.Leu48=) single nucleotide variant not provided [RCV000827500] Chr2:135058080 [GRCh38]
Chr2:135815650 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.2394C>T (p.Leu798=) single nucleotide variant not provided [RCV000880998] Chr2:135162755 [GRCh38]
Chr2:135920325 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser) single nucleotide variant not provided [RCV000946160] Chr2:135168635 [GRCh38]
Chr2:135926205 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1555-1G>A single nucleotide variant Warburg micro syndrome 1 [RCV000984501] Chr2:135135563 [GRCh38]
Chr2:135893133 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.74+136C>T single nucleotide variant not provided [RCV000834835] Chr2:135052621 [GRCh38]
Chr2:135810191 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.1067-229T>C single nucleotide variant not provided [RCV000827530] Chr2:135130323 [GRCh38]
Chr2:135887893 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.1924-93T>C single nucleotide variant not provided [RCV000827531] Chr2:135150276 [GRCh38]
Chr2:135907846 [GRCh37]
Chr2:2q21.3
likely benign
GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)x3 copy number gain not provided [RCV000849325] Chr2:135712129..137818795 [GRCh37]
Chr2:2q21.3-22.1
uncertain significance
NM_012233.3(RAB3GAP1):c.830+172C>T single nucleotide variant not provided [RCV000837977] Chr2:135124418 [GRCh38]
Chr2:135881988 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.1327-150T>C single nucleotide variant not provided [RCV000837978] Chr2:135133711 [GRCh38]
Chr2:135891281 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.830+136C>T single nucleotide variant not provided [RCV000837980] Chr2:135124382 [GRCh38]
Chr2:135881952 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.284-235A>G single nucleotide variant not provided [RCV000834943] Chr2:135093380 [GRCh38]
Chr2:135850950 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.2313G>A (p.Gln771=) single nucleotide variant not provided [RCV000841404] Chr2:135162578 [GRCh38]
Chr2:135920148 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.74+294C>T single nucleotide variant not provided [RCV000831910] Chr2:135052779 [GRCh38]
Chr2:135810349 [GRCh37]
Chr2:2q21.3
benign
GRCh37/hg19 2q21.3(chr2:135825388-135916905)x1 copy number loss not provided [RCV000849758] Chr2:135825388..135916905 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2773C>T (p.Gln925Ter) single nucleotide variant not specified [RCV000826026] Chr2:135168608 [GRCh38]
Chr2:135926178 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1236+257G>C single nucleotide variant not provided [RCV000832944] Chr2:135130978 [GRCh38]
Chr2:135888548 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.2421C>G (p.Ile807Met) single nucleotide variant not provided [RCV000997205] Chr2:135162782 [GRCh38]
Chr2:135920352 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr) single nucleotide variant Warburg micro syndrome 1 [RCV001132505] Chr2:135168635 [GRCh38]
Chr2:135926205 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1924-3C>T single nucleotide variant Warburg micro syndrome 1 [RCV001134801] Chr2:135150366 [GRCh38]
Chr2:135907936 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*557T>C single nucleotide variant Warburg micro syndrome 1 [RCV001134917] Chr2:135169338 [GRCh38]
Chr2:135926908 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn) single nucleotide variant Warburg micro syndrome 1 [RCV001132507] Chr2:135168666 [GRCh38]
Chr2:135926236 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.483-140C>A single nucleotide variant not provided [RCV000827528] Chr2:135115076 [GRCh38]
Chr2:135872646 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys) single nucleotide variant Warburg micro syndrome 1 [RCV001134800] Chr2:135135597 [GRCh38]
Chr2:135893167 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*992G>A single nucleotide variant Warburg micro syndrome 1 [RCV001134920] Chr2:135169773 [GRCh38]
Chr2:135927343 [GRCh37]
Chr2:2q21.3
benign
GRCh37/hg19 2q21.3(chr2:135848568-135891603)x3 copy number gain not provided [RCV001091277] Chr2:135848568..135891603 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.460A>G (p.Ile154Val) single nucleotide variant not provided [RCV000992740] Chr2:135113248 [GRCh38]
Chr2:135870818 [GRCh37]
Chr2:2q21.3
uncertain significance
GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1 copy number loss not provided [RCV000846930] Chr2:133457177..138188195 [GRCh37]
Chr2:2q21.2-22.1
pathogenic
GRCh37/hg19 2q21.3(chr2:135924038-136105994)x3 copy number gain not provided [RCV000848606] Chr2:135924038..136105994 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1247T>C single nucleotide variant Warburg micro syndrome 1 [RCV001129902] Chr2:135170028 [GRCh38]
Chr2:135927598 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1272T>C single nucleotide variant Warburg micro syndrome 1 [RCV001129903] Chr2:135170053 [GRCh38]
Chr2:135927623 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1534G>A single nucleotide variant Warburg micro syndrome 1 [RCV001130604] Chr2:135170315 [GRCh38]
Chr2:135927885 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1543T>C single nucleotide variant Warburg micro syndrome 1 [RCV001130605] Chr2:135170324 [GRCh38]
Chr2:135927894 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*255T>G single nucleotide variant Warburg micro syndrome 1 [RCV001133431] Chr2:135169036 [GRCh38]
Chr2:135926606 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.240A>C (p.Val80=) single nucleotide variant not provided [RCV000953867] Chr2:135091087 [GRCh38]
Chr2:135848657 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.846T>C (p.Ala282=) single nucleotide variant not provided [RCV000904630] Chr2:135126196 [GRCh38]
Chr2:135883766 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) single nucleotide variant Warburg micro syndrome 1 [RCV001132506]|not provided [RCV000952004] Chr2:135168635 [GRCh38]
Chr2:135926205 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.*1209T>C single nucleotide variant Warburg micro syndrome 1 [RCV001129900] Chr2:135169990 [GRCh38]
Chr2:135927560 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1212A>G single nucleotide variant Warburg micro syndrome 1 [RCV001129901] Chr2:135169993 [GRCh38]
Chr2:135927563 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1056G>A single nucleotide variant Warburg micro syndrome 1 [RCV001134921] Chr2:135169837 [GRCh38]
Chr2:135927407 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.2650G>A (p.Gly884Ser) single nucleotide variant not provided [RCV000997206] Chr2:135164637 [GRCh38]
Chr2:135922207 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.74+8A>T single nucleotide variant not provided [RCV000911056] Chr2:135052493 [GRCh38]
Chr2:135810063 [GRCh37]
Chr2:2q21.3
likely benign
NM_012233.3(RAB3GAP1):c.982_988delinsTTA (p.Val328fs) indel not provided [RCV001008365] Chr2:135130003..135130009 [GRCh38]
Chr2:135887573..135887579 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln) single nucleotide variant Warburg micro syndrome 1 [RCV001129817] Chr2:135163035 [GRCh38]
Chr2:135920605 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1764C>G single nucleotide variant Warburg micro syndrome 1 [RCV001130606] Chr2:135170545 [GRCh38]
Chr2:135928115 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.-4C>T single nucleotide variant Warburg micro syndrome 1 [RCV001129694] Chr2:135052304 [GRCh38]
Chr2:135809874 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1826G>C single nucleotide variant Warburg micro syndrome 1 [RCV001130607] Chr2:135170607 [GRCh38]
Chr2:135928177 [GRCh37]
Chr2:2q21.3
benign
NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp) single nucleotide variant Warburg micro syndrome 1 [RCV001133325] Chr2:135130638 [GRCh38]
Chr2:135888208 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=) single nucleotide variant Warburg micro syndrome 1 [RCV001133326] Chr2:135130718 [GRCh38]
Chr2:135888288 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1898G>A single nucleotide variant Warburg micro syndrome 1 [RCV001130608] Chr2:135170679 [GRCh38]
Chr2:135928249 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala) single nucleotide variant Warburg micro syndrome 1 [RCV001132407] Chr2:135126200 [GRCh38]
Chr2:135883770 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*507A>G single nucleotide variant Warburg micro syndrome 1 [RCV001133432] Chr2:135169288 [GRCh38]
Chr2:135926858 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*647T>C single nucleotide variant Warburg micro syndrome 1 [RCV001134918] Chr2:135169428 [GRCh38]
Chr2:135926998 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser) single nucleotide variant Warburg micro syndrome 1 [RCV001129695] Chr2:135052446 [GRCh38]
Chr2:135810016 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.*1107A>C single nucleotide variant Warburg micro syndrome 1 [RCV001129899] Chr2:135169888 [GRCh38]
Chr2:135927458 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.482+1G>A single nucleotide variant not provided [RCV001267985] Chr2:135113271 [GRCh38]
Chr2:135870841 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.151-5T>G single nucleotide variant Cryptorchidism [RCV001291521] Chr2:135090993 [GRCh38]
Chr2:135848563 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg) single nucleotide variant Warburg micro syndrome 1 [RCV001330411] Chr2:135133910 [GRCh38]
Chr2:135891480 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) single nucleotide variant Warburg micro syndrome 1 [RCV001352678] Chr2:135135317 [GRCh38]
Chr2:135892887 [GRCh37]
Chr2:2q21.3
pathogenic
NM_012233.3(RAB3GAP1):c.2588A>C (p.Glu863Ala) single nucleotide variant not provided [RCV001354135] Chr2:135163083 [GRCh38]
Chr2:135920653 [GRCh37]
Chr2:2q21.3
uncertain significance
RAB3GAP1, EX1-25DEL deletion Warburg micro syndrome 1 [RCV001507286] Chr2:2q21.3 pathogenic
NM_012233.3(RAB3GAP1):c.2449A>G (p.Lys817Glu) single nucleotide variant not provided [RCV001509162] Chr2:135162810 [GRCh38]
Chr2:135920380 [GRCh37]
Chr2:2q21.3
uncertain significance
NM_012233.3(RAB3GAP1):c.107_114del (p.Asp36fs) deletion not provided [RCV001386475] Chr2:135058043..135058050 [GRCh38]
Chr2:135815613..135815620 [GRCh37]
Chr2:2q21.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17063 AgrOrtholog
COSMIC RAB3GAP1 COSMIC
Ensembl Genes ENSG00000115839 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264158 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400761 UniProtKB/TrEMBL
  ENSP00000411418 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444306 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264158 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425393 UniProtKB/TrEMBL
  ENST00000442034 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000487003 ENTREZGENE
  ENST00000539493 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000115839 GTEx
HGNC ID HGNC:17063 ENTREZGENE
Human Proteome Map RAB3GAP1 Human Proteome Map
InterPro Rab3-GAP_cat_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22930 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 22930 ENTREZGENE
OMIM 600118 OMIM
  602536 OMIM
PANTHER PTHR21422 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rab3-GTPase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134969639 PharmGKB
UniProt B9A6J2 ENTREZGENE, UniProtKB/TrEMBL
  C9J1R5_HUMAN UniProtKB/TrEMBL
  D3DP75_HUMAN UniProtKB/TrEMBL
  Q15042 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6H8Z3 UniProtKB/Swiss-Prot
  C9J837 UniProtKB/Swiss-Prot
  Q659F5 UniProtKB/Swiss-Prot
  Q8TBB4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 RAB3GAP1  RAB3 GTPase activating protein catalytic subunit 1    RAB3 GTPase activating protein subunit 1 (catalytic)  Symbol and/or name change 5135510 APPROVED