ARHGAP31 (Rho GTPase activating protein 31) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ARHGAP31 (Rho GTPase activating protein 31) Homo sapiens
Analyze
Symbol: ARHGAP31
Name: Rho GTPase activating protein 31
RGD ID: 1606256
Description: Predicted to have GTPase activator activity. Predicted to be involved in small GTPase mediated signal transduction. Predicted to localize to lamellipodium. Implicated in Adams-Oliver syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AOS1; Cdc42 GTPase-activating protein; CDGAP; KIAA1204; MGC138368; MGC138370; rho GTPase-activating protein 31
Orthologs:
Mus musculus (house mouse) : Arhgap31 (Rho GTPase activating protein 31)  MGI  Alliance
Rattus norvegicus (Norway rat) : Arhgap31 (Rho GTPase activating protein 31)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Arhgap31 (Rho GTPase activating protein 31)
Pan paniscus (bonobo/pygmy chimpanzee) : ARHGAP31 (Rho GTPase activating protein 31)
Canis lupus familiaris (dog) : ARHGAP31 (Rho GTPase activating protein 31)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Arhgap31 (Rho GTPase activating protein 31)
Sus scrofa (pig) : ARHGAP31 (Rho GTPase activating protein 31)
Chlorocebus sabaeus (African green monkey) : ARHGAP31 (Rho GTPase activating protein 31)
Heterocephalus glaber (naked mole-rat) : Arhgap31 (Rho GTPase activating protein 31)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3119,294,383 - 119,420,714 (+)EnsemblGRCh38hg38GRCh38
GRCh383119,294,289 - 119,420,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373119,013,220 - 119,138,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,495,910 - 120,619,254 (+)NCBINCBI36hg18NCBI36
Celera3117,421,692 - 117,546,790 (+)NCBI
Cytogenetic Map3q13.32-q13.33NCBI
HuRef3116,388,684 - 116,513,719 (+)NCBIHuRef
CHM1_13118,976,689 - 119,101,812 (+)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 pulmonary valve morphology  (IAGP)
Abnormality of the metacarpal bones  (IAGP)
Absent fingernail  (IAGP)
Absent hand  (IAGP)
Absent toe  (IAGP)
Alopecia  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia cutis congenita on trunk or limbs  (IAGP)
Aplasia cutis congenita over posterior parietal area  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Brachydactyly  (IAGP)
Calvarial skull defect  (IAGP)
Cataract  (IAGP)
Cirrhosis  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Cortical dysplasia  (IAGP)
Cutis marmorata  (IAGP)
EEG abnormality  (IAGP)
Encephalocele  (IAGP)
Esophageal varix  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Finger syndactyly  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hemiparesis  (IAGP)
Hydrocephalus  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic left heart  (IAGP)
Imperforate hymen  (IAGP)
Intellectual disability  (IAGP)
Leukopenia  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Muscular hypotonia  (IAGP)
Pachygyria  (IAGP)
Periventricular leukomalacia  (IAGP)
Polymicrogyria  (IAGP)
Porencephalic cyst  (IAGP)
Portal hypertension  (IAGP)
Premature birth  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery atresia  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonic stenosis  (IAGP)
Seizure  (IAGP)
Short distal phalanx of finger  (IAGP)
Small nail  (IAGP)
Sparse hair  (IAGP)
Split hand  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:9786927   PMID:10574462   PMID:11744688   PMID:12477932   PMID:12819203   PMID:15761153   PMID:16519628   PMID:17158447   PMID:18539136   PMID:19706030   PMID:20190752  
PMID:20936779   PMID:21565291   PMID:21774070   PMID:21873635   PMID:22518840   PMID:22907917   PMID:23894747   PMID:24632816   PMID:24668619   PMID:27077170   PMID:27591049   PMID:28135249  
PMID:29507755   PMID:30639242   PMID:32203420  


Genomics

Comparative Map Data
ARHGAP31
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3119,294,383 - 119,420,714 (+)EnsemblGRCh38hg38GRCh38
GRCh383119,294,289 - 119,420,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373119,013,220 - 119,138,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,495,910 - 120,619,254 (+)NCBINCBI36hg18NCBI36
Celera3117,421,692 - 117,546,790 (+)NCBI
Cytogenetic Map3q13.32-q13.33NCBI
HuRef3116,388,684 - 116,513,719 (+)NCBIHuRef
CHM1_13118,976,689 - 119,101,812 (+)NCBICHM1_1
Arhgap31
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391638,418,705 - 38,533,397 (-)NCBI
GRCm381638,598,343 - 38,713,035 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1638,598,340 - 38,713,274 (-)EnsemblGRCm38mm10GRCm38
MGSCv371638,598,456 - 38,713,148 (-)NCBIGRCm37mm9NCBIm37
MGSCv361638,517,675 - 38,632,367 (-)NCBImm8
Celera1639,010,417 - 39,125,124 (-)NCBICelera
Cytogenetic Map16B4NCBI
Arhgap31
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01164,600,968 - 64,714,114 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1164,601,029 - 64,714,252 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01167,395,537 - 67,508,274 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,814,916 - 63,929,011 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11163,872,720 - 63,986,540 (+)NCBI
Celera1161,541,526 - 61,654,475 (+)NCBICelera
Cytogenetic Map11q21NCBI
Arhgap31
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542719,019,511 - 19,131,755 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542719,019,008 - 19,136,298 (+)NCBIChiLan1.0ChiLan1.0
ARHGAP31
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13123,324,166 - 123,450,236 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3123,324,166 - 123,450,236 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03116,412,238 - 116,536,900 (+)NCBIMhudiblu_PPA_v0panPan3
ARHGAP31
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3322,965,599 - 23,074,943 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13322,965,941 - 23,079,590 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Arhgap31
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365366,261,837 - 6,369,318 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP31
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13140,837,081 - 140,948,253 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113140,837,078 - 140,948,504 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213150,136,809 - 150,239,772 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGAP31
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2261,415,804 - 61,543,834 (-)Ensembl
ChlSab1.12261,415,805 - 61,543,679 (-)NCBI
Arhgap31
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473128,780,180 - 28,894,018 (-)NCBI

Position Markers
RH99056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,138,360 - 119,138,483UniSTSGRCh37
Build 363120,621,050 - 120,621,173RGDNCBI36
Celera3117,546,827 - 117,546,950RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,513,756 - 116,513,879UniSTS
GeneMap99-GB4 RH Map3418.72UniSTS
SHGC-85123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,090,152 - 119,090,429UniSTSGRCh37
Build 363120,572,842 - 120,573,119RGDNCBI36
Celera3117,498,621 - 117,498,898RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,465,540 - 116,465,817UniSTS
TNG Radiation Hybrid Map368004.0UniSTS
SHGC-144836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,114,081 - 119,114,417UniSTSGRCh37
Build 363120,596,771 - 120,597,107RGDNCBI36
Celera3117,522,548 - 117,522,884RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,489,477 - 116,489,813UniSTS
TNG Radiation Hybrid Map368004.0UniSTS
SHGC-132468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,136,247 - 119,136,516UniSTSGRCh37
Build 363120,618,937 - 120,619,206RGDNCBI36
Celera3117,544,714 - 117,544,983RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,511,643 - 116,511,912UniSTS
TNG Radiation Hybrid Map368008.0UniSTS
SHGC-7110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,072,798 - 119,072,940UniSTSGRCh37
Build 363120,555,488 - 120,555,630RGDNCBI36
Celera3117,481,267 - 117,481,409RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,448,265 - 116,448,407UniSTS
Stanford-G3 RH Map35367.0UniSTS
SHGC-32480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,136,445 - 119,136,547UniSTSGRCh37
Build 363120,619,135 - 120,619,237RGDNCBI36
Celera3117,544,912 - 117,545,014RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,511,841 - 116,511,943UniSTS
Stanford-G3 RH Map35360.0UniSTS
GeneMap99-GB4 RH Map3418.72UniSTS
Whitehead-RH Map3534.4UniSTS
NCBI RH Map31031.9UniSTS
GeneMap99-G3 RH Map35830.0UniSTS
CDGAP_4536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,135,911 - 119,136,593UniSTSGRCh37
Build 363120,618,601 - 120,619,283RGDNCBI36
Celera3117,544,378 - 117,545,060RGD
HuRef3116,511,307 - 116,511,989UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2106
Count of miRNA genes:1046
Interacting mature miRNAs:1289
Transcripts:ENST00000264245, ENST00000482743
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 830 694 724 14 592 13 1994 595 803 152 336 1342 4 1165 1114 1
Low 1556 2200 913 522 1203 364 2356 1595 2908 262 1089 211 167 39 1673 3
Below cutoff 43 96 85 85 144 85 6 5 18 4 29 51 2 1 1 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000264245   ⟹   ENSP00000264245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,294,383 - 119,420,714 (+)Ensembl
RefSeq Acc Id: ENST00000482743   ⟹   ENSP00000418429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,324,892 - 119,383,128 (+)Ensembl
RefSeq Acc Id: NM_020754   ⟹   NP_065805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,294,383 - 119,420,714 (+)NCBI
GRCh373119,013,220 - 119,138,323 (+)NCBI
Build 363120,495,910 - 120,619,254 (+)NCBI Archive
Celera3117,421,692 - 117,546,790 (+)RGD
HuRef3116,388,684 - 116,513,719 (+)ENTREZGENE
CHM1_13118,976,689 - 119,101,812 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713714   ⟹   XP_006713777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,294,289 - 119,417,722 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006955   ⟹   XP_016862444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,294,289 - 119,417,722 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065805   ⟸   NM_020754
- UniProtKB: Q2M1Z3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006713777   ⟸   XM_006713714
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016862444   ⟸   XM_017006955
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000418429   ⟸   ENST00000482743
RefSeq Acc Id: ENSP00000264245   ⟸   ENST00000264245
Protein Domains
Rho-GAP

Promoters
RGD ID:6865336
Promoter ID:EPDNEW_H5833
Type:initiation region
Name:ARHGAP31_1
Description:Rho GTPase activating protein 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5834  EPDNEW_H5835  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,294,055 - 119,294,115EPDNEW
RGD ID:6865338
Promoter ID:EPDNEW_H5834
Type:initiation region
Name:ARHGAP31_2
Description:Rho GTPase activating protein 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5833  EPDNEW_H5835  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,294,383 - 119,294,443EPDNEW
RGD ID:6865340
Promoter ID:EPDNEW_H5835
Type:initiation region
Name:ARHGAP31_3
Description:Rho GTPase activating protein 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5833  EPDNEW_H5834  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,294,670 - 119,294,730EPDNEW
RGD ID:6800620
Promoter ID:HG_KWN:45912
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_020754
Position:
Human AssemblyChrPosition (strand)Source
Build 363120,495,546 - 120,496,487 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020754.4(ARHGAP31):c.29T>C (p.Leu10Pro) single nucleotide variant not provided [RCV000520449] Chr3:119294933 [GRCh38]
Chr3:119013780 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) deletion Adams-Oliver syndrome 1 [RCV000023843] Chr3:119415187 [GRCh38]
Chr3:119134034 [GRCh37]
Chr3:3q13.33
pathogenic
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) single nucleotide variant Adams-Oliver syndrome 1 [RCV000023842] Chr3:119413976 [GRCh38]
Chr3:119132823 [GRCh37]
Chr3:3q13.33
pathogenic
NM_020754.3(ARHGAP31):c.100+16077C>A single nucleotide variant Lung cancer [RCV000092841] Chr3:119311081 [GRCh38]
Chr3:119029928 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.3(ARHGAP31):c.100+22259C>A single nucleotide variant Lung cancer [RCV000092842] Chr3:119317263 [GRCh38]
Chr3:119036110 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.3(ARHGAP31):c.101-32819G>T single nucleotide variant Lung cancer [RCV000092843] Chr3:119332497 [GRCh38]
Chr3:119051344 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.3(ARHGAP31):c.1646-2956A>G single nucleotide variant Lung cancer [RCV000092844] Chr3:119406540 [GRCh38]
Chr3:119125387 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) single nucleotide variant Adams-Oliver syndrome 1 [RCV000662241] Chr3:119414111 [GRCh38]
Chr3:119132958 [GRCh37]
Chr3:3q13.33
pathogenic
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) single nucleotide variant Adams-Oliver syndrome 1 [RCV000987305]|not provided [RCV000428753]|not specified [RCV000179966] Chr3:119390922 [GRCh38]
Chr3:119109769 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.1025G>A (p.Arg342Gln) single nucleotide variant not provided [RCV000514035] Chr3:119399217 [GRCh38]
Chr3:119118064 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) single nucleotide variant not provided [RCV000173887] Chr3:119402182 [GRCh38]
Chr3:119121029 [GRCh37]
Chr3:3q13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=) single nucleotide variant not provided [RCV000174393] Chr3:119414341 [GRCh38]
Chr3:119133188 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.3461C>T (p.Pro1154Leu) single nucleotide variant not provided [RCV000174394] Chr3:119415390 [GRCh38]
Chr3:119134237 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.1824G>A (p.Pro608=) single nucleotide variant not provided [RCV000174152] Chr3:119409674 [GRCh38]
Chr3:119128521 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4 copy number gain See cases [RCV000135591] Chr3:117844958..120797026 [GRCh38]
Chr3:117563805..120515873 [GRCh37]
Chr3:119046495..121998563 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 copy number gain See cases [RCV000142877] Chr3:117844958..120826621 [GRCh38]
Chr3:117563805..120545468 [GRCh37]
Chr3:119046495..122028158 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
NM_020754.4(ARHGAP31):c.*1238T>C single nucleotide variant Adams-Oliver syndrome [RCV000260275] Chr3:119417502 [GRCh38]
Chr3:119136349 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.4110G>A (p.Lys1370=) single nucleotide variant not provided [RCV000973677] Chr3:119416039 [GRCh38]
Chr3:119134886 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.1926+11T>C single nucleotide variant Adams-Oliver syndrome [RCV000261517] Chr3:119409787 [GRCh38]
Chr3:119128634 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.349-7T>G single nucleotide variant not provided [RCV000891970]|not specified [RCV000277339] Chr3:119380897 [GRCh38]
Chr3:119099744 [GRCh37]
Chr3:3q13.33
benign|likely benign|uncertain significance
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=) single nucleotide variant not provided [RCV000305913] Chr3:119382295 [GRCh38]
Chr3:119101142 [GRCh37]
Chr3:3q13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) single nucleotide variant not provided [RCV000923393]|not specified [RCV000284324] Chr3:119402370 [GRCh38]
Chr3:119121217 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) single nucleotide variant not provided [RCV000901379]|not specified [RCV000272325] Chr3:119393521 [GRCh38]
Chr3:119112368 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) single nucleotide variant not provided [RCV000224189]|not specified [RCV000597443] Chr3:119414273 [GRCh38]
Chr3:119133120 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.2312T>C (p.Val771Ala) single nucleotide variant not provided [RCV000224447] Chr3:119414241 [GRCh38]
Chr3:119133088 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) single nucleotide variant not provided [RCV000899220]|not specified [RCV000349585] Chr3:119416025 [GRCh38]
Chr3:119134872 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.203+6C>T single nucleotide variant not provided [RCV000909770] Chr3:119365424 [GRCh38]
Chr3:119084271 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.2814G>T (p.Gln938His) single nucleotide variant not provided [RCV000879563]|not specified [RCV000727913] Chr3:119414743 [GRCh38]
Chr3:119133590 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2568G>A (p.Gly856=) single nucleotide variant Adams-Oliver syndrome [RCV000286023] Chr3:119414497 [GRCh38]
Chr3:119133344 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2743C>G single nucleotide variant Adams-Oliver syndrome [RCV000286769] Chr3:119419007 [GRCh38]
Chr3:119137854 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2801C>T single nucleotide variant Adams-Oliver syndrome [RCV000279738] Chr3:119419065 [GRCh38]
Chr3:119137912 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.-40G>A single nucleotide variant Adams-Oliver syndrome [RCV000281614] Chr3:119294865 [GRCh38]
Chr3:119013712 [GRCh37]
Chr3:3q13.32
likely benign
NM_020754.4(ARHGAP31):c.*105T>C single nucleotide variant Adams-Oliver syndrome [RCV000282021] Chr3:119416369 [GRCh38]
Chr3:119135216 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*3166C>G single nucleotide variant Adams-Oliver syndrome [RCV000270028] Chr3:119419430 [GRCh38]
Chr3:119138277 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2180C>T (p.Thr727Ile) single nucleotide variant Adams-Oliver syndrome [RCV000273973] Chr3:119414109 [GRCh38]
Chr3:119132956 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*2281C>G single nucleotide variant Adams-Oliver syndrome [RCV000274856] Chr3:119418545 [GRCh38]
Chr3:119137392 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1178A>G (p.Lys393Arg) single nucleotide variant Adams-Oliver syndrome [RCV000275907] Chr3:119401930 [GRCh38]
Chr3:119120777 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*2173G>A single nucleotide variant Adams-Oliver syndrome [RCV000275908] Chr3:119418437 [GRCh38]
Chr3:119137284 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*2689C>T single nucleotide variant Adams-Oliver syndrome [RCV000269022] Chr3:119418953 [GRCh38]
Chr3:119137800 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3983G>A (p.Arg1328Gln) single nucleotide variant Adams-Oliver syndrome [RCV000269094] Chr3:119415912 [GRCh38]
Chr3:119134759 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) single nucleotide variant not specified [RCV000454849] Chr3:119414336 [GRCh38]
Chr3:119133183 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1926+13C>A single nucleotide variant Adams-Oliver syndrome [RCV000314340] Chr3:119409789 [GRCh38]
Chr3:119128636 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1184A>G (p.Glu395Gly) single nucleotide variant Adams-Oliver syndrome [RCV000333343] Chr3:119401936 [GRCh38]
Chr3:119120783 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*466C>T single nucleotide variant Adams-Oliver syndrome [RCV000352060] Chr3:119416730 [GRCh38]
Chr3:119135577 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*3013G>A single nucleotide variant Adams-Oliver syndrome [RCV000397395] Chr3:119419277 [GRCh38]
Chr3:119138124 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*2051C>A single nucleotide variant Adams-Oliver syndrome [RCV000397625] Chr3:119418315 [GRCh38]
Chr3:119137162 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=) single nucleotide variant not provided [RCV000893280] Chr3:119402366 [GRCh38]
Chr3:119121213 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*2178C>T single nucleotide variant Adams-Oliver syndrome [RCV000314595] Chr3:119418442 [GRCh38]
Chr3:119137289 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=) single nucleotide variant Adams-Oliver syndrome [RCV000314836] Chr3:119415544 [GRCh38]
Chr3:119134391 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*3021G>A single nucleotide variant Adams-Oliver syndrome [RCV000314792] Chr3:119419285 [GRCh38]
Chr3:119138132 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*1126A>T single nucleotide variant Adams-Oliver syndrome [RCV000398610] Chr3:119417390 [GRCh38]
Chr3:119136237 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3802G>A (p.Gly1268Arg) single nucleotide variant not provided [RCV000914253] Chr3:119415731 [GRCh38]
Chr3:119134578 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1044C>T (p.Asp348=) single nucleotide variant Adams-Oliver syndrome [RCV000315955] Chr3:119399236 [GRCh38]
Chr3:119118083 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2802G>A single nucleotide variant Adams-Oliver syndrome [RCV000334740] Chr3:119419066 [GRCh38]
Chr3:119137913 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr) single nucleotide variant not provided [RCV000956128] Chr3:119415185 [GRCh38]
Chr3:119134032 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1926+5A>G single nucleotide variant not specified [RCV000456046] Chr3:119409781 [GRCh38]
Chr3:119128628 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=) single nucleotide variant Adams-Oliver syndrome [RCV000376341] Chr3:119414707 [GRCh38]
Chr3:119133554 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.540-6C>T single nucleotide variant Adams-Oliver syndrome [RCV000399877] Chr3:119383078 [GRCh38]
Chr3:119101925 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=) single nucleotide variant Adams-Oliver syndrome [RCV000399946] Chr3:119409551 [GRCh38]
Chr3:119128398 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1823C>T (p.Pro608Leu) single nucleotide variant Adams-Oliver syndrome [RCV000301458] Chr3:119409673 [GRCh38]
Chr3:119128520 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.848T>A (p.Leu283His) single nucleotide variant Adams-Oliver syndrome [RCV000302257] Chr3:119390950 [GRCh38]
Chr3:119109797 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1311A>T single nucleotide variant Adams-Oliver syndrome [RCV000317808] Chr3:119417575 [GRCh38]
Chr3:119136422 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2940A>G (p.Thr980=) single nucleotide variant Adams-Oliver syndrome [RCV000336845] Chr3:119414869 [GRCh38]
Chr3:119133716 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1995G>A single nucleotide variant Adams-Oliver syndrome [RCV000336774] Chr3:119418259 [GRCh38]
Chr3:119137106 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*2743C>A single nucleotide variant Adams-Oliver syndrome [RCV000378817] Chr3:119419007 [GRCh38]
Chr3:119137854 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*1987C>G single nucleotide variant Adams-Oliver syndrome [RCV000302921] Chr3:119418251 [GRCh38]
Chr3:119137098 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.-38C>A single nucleotide variant Adams-Oliver syndrome [RCV000317937] Chr3:119294867 [GRCh38]
Chr3:119013714 [GRCh37]
Chr3:3q13.32
benign
NM_020754.4(ARHGAP31):c.*1219C>T single nucleotide variant Adams-Oliver syndrome [RCV000318813] Chr3:119417483 [GRCh38]
Chr3:119136330 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.881+7G>A single nucleotide variant Adams-Oliver syndrome [RCV000357133] Chr3:119390990 [GRCh38]
Chr3:119109837 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=) single nucleotide variant not provided [RCV000893279] Chr3:119402285 [GRCh38]
Chr3:119121132 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*2744A>G single nucleotide variant Adams-Oliver syndrome [RCV000339474] Chr3:119419008 [GRCh38]
Chr3:119137855 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*1176T>G single nucleotide variant Adams-Oliver syndrome [RCV000358525] Chr3:119417440 [GRCh38]
Chr3:119136287 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*1692G>T single nucleotide variant Adams-Oliver syndrome [RCV000381690] Chr3:119417956 [GRCh38]
Chr3:119136803 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*1712T>C single nucleotide variant Adams-Oliver syndrome [RCV000289613] Chr3:119417976 [GRCh38]
Chr3:119136823 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe) single nucleotide variant Adams-Oliver syndrome [RCV000382744] Chr3:119414426 [GRCh38]
Chr3:119133273 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1156C>G single nucleotide variant Adams-Oliver syndrome [RCV000305250] Chr3:119417420 [GRCh38]
Chr3:119136267 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.662C>T (p.Pro221Leu) single nucleotide variant not provided [RCV000424021] Chr3:119383206 [GRCh38]
Chr3:119102053 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.-149G>A single nucleotide variant Adams-Oliver syndrome [RCV000321568] Chr3:119294756 [GRCh38]
Chr3:119013603 [GRCh37]
Chr3:3q13.32
likely benign
NM_020754.4(ARHGAP31):c.4132A>G (p.Ser1378Gly) single nucleotide variant not provided [RCV000976048] Chr3:119416061 [GRCh38]
Chr3:119134908 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu) single nucleotide variant not provided [RCV000893281] Chr3:119409550 [GRCh38]
Chr3:119128397 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.-194G>A single nucleotide variant Adams-Oliver syndrome [RCV000361208] Chr3:119294711 [GRCh38]
Chr3:119013558 [GRCh37]
Chr3:3q13.32
benign
NM_020754.4(ARHGAP31):c.2359C>T (p.Pro787Ser) single nucleotide variant Adams-Oliver syndrome [RCV000383677] Chr3:119414288 [GRCh38]
Chr3:119133135 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=) single nucleotide variant not provided [RCV000893278] Chr3:119402243 [GRCh38]
Chr3:119121090 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*985_*986insC insertion Adams-Oliver syndrome [RCV000306256] Chr3:119417249..119417250 [GRCh38]
Chr3:119136096..119136097 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.2777C>T (p.Ala926Val) single nucleotide variant Adams-Oliver syndrome [RCV000342622] Chr3:119414706 [GRCh38]
Chr3:119133553 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.473C>T (p.Ser158Phe) single nucleotide variant Adams-Oliver syndrome [RCV000363719] Chr3:119382333 [GRCh38]
Chr3:119101180 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.1307G>A (p.Arg436Gln) single nucleotide variant Adams-Oliver syndrome [RCV000385456] Chr3:119402059 [GRCh38]
Chr3:119120906 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1533T>C single nucleotide variant Adams-Oliver syndrome [RCV000387094] Chr3:119417797 [GRCh38]
Chr3:119136644 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*590C>T single nucleotide variant Adams-Oliver syndrome [RCV000293489] Chr3:119416854 [GRCh38]
Chr3:119135701 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1371G>T (p.Ser457=) single nucleotide variant Adams-Oliver syndrome [RCV000293546] Chr3:119402123 [GRCh38]
Chr3:119120970 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=) single nucleotide variant not provided [RCV000893532] Chr3:119380939 [GRCh38]
Chr3:119099786 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.-295A>G single nucleotide variant Adams-Oliver syndrome [RCV000366374] Chr3:119294610 [GRCh38]
Chr3:119013457 [GRCh37]
Chr3:3q13.32
likely benign
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) single nucleotide variant Adams-Oliver syndrome [RCV000366086] Chr3:119415882 [GRCh38]
Chr3:119134729 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*1373G>A single nucleotide variant Adams-Oliver syndrome [RCV000388748] Chr3:119417637 [GRCh38]
Chr3:119136484 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*269A>G single nucleotide variant Adams-Oliver syndrome [RCV000294780] Chr3:119416533 [GRCh38]
Chr3:119135380 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.436T>C (p.Leu146=) single nucleotide variant Adams-Oliver syndrome [RCV000309134] Chr3:119382296 [GRCh38]
Chr3:119101143 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.4084C>G (p.Pro1362Ala) single nucleotide variant Adams-Oliver syndrome [RCV000326622] Chr3:119416013 [GRCh38]
Chr3:119134860 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2693G>A single nucleotide variant Adams-Oliver syndrome [RCV000326553] Chr3:119418957 [GRCh38]
Chr3:119137804 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*610T>A single nucleotide variant Adams-Oliver syndrome [RCV000346168] Chr3:119416874 [GRCh38]
Chr3:119135721 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2192G>T single nucleotide variant Adams-Oliver syndrome [RCV000366925] Chr3:119418456 [GRCh38]
Chr3:119137303 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3801C>T (p.Pro1267=) single nucleotide variant Adams-Oliver syndrome [RCV000367119] Chr3:119415730 [GRCh38]
Chr3:119134577 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*2355A>G single nucleotide variant Adams-Oliver syndrome [RCV000327675] Chr3:119418619 [GRCh38]
Chr3:119137466 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*1657C>T single nucleotide variant Adams-Oliver syndrome [RCV000348108] Chr3:119417921 [GRCh38]
Chr3:119136768 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*3123A>G single nucleotide variant Adams-Oliver syndrome [RCV000369289] Chr3:119419387 [GRCh38]
Chr3:119138234 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.-369G>A single nucleotide variant Adams-Oliver syndrome [RCV000311620] Chr3:119294536 [GRCh38]
Chr3:119013383 [GRCh37]
Chr3:3q13.32
likely benign
NM_020754.4(ARHGAP31):c.432-7A>G single nucleotide variant not provided [RCV000962037] Chr3:119382285 [GRCh38]
Chr3:119101132 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.*1386A>T single nucleotide variant Adams-Oliver syndrome [RCV000330176] Chr3:119417650 [GRCh38]
Chr3:119136497 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2036C>T (p.Thr679Ile) single nucleotide variant not provided [RCV000900427] Chr3:119413965 [GRCh38]
Chr3:119132812 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) single nucleotide variant not provided [RCV000926668]|not specified [RCV000595430] Chr3:119414288 [GRCh38]
Chr3:119133135 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.100+9C>T single nucleotide variant not provided [RCV000917613] Chr3:119295013 [GRCh38]
Chr3:119013860 [GRCh37]
Chr3:3q13.32
benign|likely benign
NM_020754.4(ARHGAP31):c.1065= (p.Val355=) single nucleotide variant Adams-Oliver syndrome [RCV000372854] Chr3:119399257 [GRCh38]
Chr3:119118104 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.*267C>T single nucleotide variant Adams-Oliver syndrome [RCV000372928] Chr3:119416531 [GRCh38]
Chr3:119135378 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*2842T>C single nucleotide variant Adams-Oliver syndrome [RCV000395708] Chr3:119419106 [GRCh38]
Chr3:119137953 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3458A>G (p.Asp1153Gly) single nucleotide variant not provided [RCV000888937] Chr3:119415387 [GRCh38]
Chr3:119134234 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile) single nucleotide variant Adams-Oliver syndrome [RCV000395875] Chr3:119415033 [GRCh38]
Chr3:119133880 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.*737A>G single nucleotide variant Adams-Oliver syndrome [RCV000396269] Chr3:119417001 [GRCh38]
Chr3:119135848 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*590C>G single nucleotide variant Adams-Oliver syndrome [RCV000396299] Chr3:119416854 [GRCh38]
Chr3:119135701 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu) single nucleotide variant not provided [RCV000303551] Chr3:119414145 [GRCh38]
Chr3:119132992 [GRCh37]
Chr3:3q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_020754.4(ARHGAP31):c.-209C>T single nucleotide variant Adams-Oliver syndrome [RCV000271925] Chr3:119294696 [GRCh38]
Chr3:119013543 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.2792T>A (p.Val931Glu) single nucleotide variant not provided [RCV000378388] Chr3:119414721 [GRCh38]
Chr3:119133568 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=) single nucleotide variant not provided [RCV000898138]|not specified [RCV000381664] Chr3:119383198 [GRCh38]
Chr3:119102045 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.347C>T (p.Thr116Met) single nucleotide variant not provided [RCV000281382] Chr3:119368515 [GRCh38]
Chr3:119087362 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) single nucleotide variant not provided [RCV000313938] Chr3:119414252 [GRCh38]
Chr3:119133099 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=) single nucleotide variant not provided [RCV000314677] Chr3:119415184 [GRCh38]
Chr3:119134031 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=) single nucleotide variant not provided [RCV000893282]|not specified [RCV000348214] Chr3:119414293 [GRCh38]
Chr3:119133140 [GRCh37]
Chr3:3q13.33
benign|likely benign
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr) single nucleotide variant not provided [RCV000290076] Chr3:119382359 [GRCh38]
Chr3:119101206 [GRCh37]
Chr3:3q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_020754.4(ARHGAP31):c.843C>T (p.Gly281=) single nucleotide variant Adams-Oliver syndrome [RCV000265799] Chr3:119390945 [GRCh38]
Chr3:119109792 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1186A>G single nucleotide variant Adams-Oliver syndrome [RCV000266143] Chr3:119417450 [GRCh38]
Chr3:119136297 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.4121C>T (p.Ser1374Phe) single nucleotide variant not provided [RCV000325245] Chr3:119416050 [GRCh38]
Chr3:119134897 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.-172_-166CCCGCGG[3] microsatellite Adams-Oliver syndrome [RCV000266551] Chr3:119294729..119294730 [GRCh38]
Chr3:119013576..119013577 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.4218G>C (p.Arg1406Ser) single nucleotide variant not provided [RCV000327943] Chr3:119416147 [GRCh38]
Chr3:119134994 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.2611G>T (p.Val871Phe) single nucleotide variant not provided [RCV000267588] Chr3:119414540 [GRCh38]
Chr3:119133387 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1648C>T single nucleotide variant Adams-Oliver syndrome [RCV000290822] Chr3:119417912 [GRCh38]
Chr3:119136759 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.1538C>T (p.Pro513Leu) single nucleotide variant Adams-Oliver syndrome [RCV000344891] Chr3:119402290 [GRCh38]
Chr3:119121137 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.-390G>C single nucleotide variant Adams-Oliver syndrome [RCV000399325] Chr3:119294515 [GRCh38]
Chr3:119013362 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.*1089C>T single nucleotide variant Adams-Oliver syndrome [RCV000363319] Chr3:119417353 [GRCh38]
Chr3:119136200 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*183A>G single nucleotide variant Adams-Oliver syndrome [RCV000316004] Chr3:119416447 [GRCh38]
Chr3:119135294 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2471G>T single nucleotide variant Adams-Oliver syndrome [RCV000384437] Chr3:119418735 [GRCh38]
Chr3:119137582 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2935C>T single nucleotide variant Adams-Oliver syndrome [RCV000349842] Chr3:119419199 [GRCh38]
Chr3:119138046 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.-443C>G single nucleotide variant Adams-Oliver syndrome [RCV000369793] Chr3:119294462 [GRCh38]
Chr3:119013309 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.*1387_*1390CTCA[1] microsatellite Adams-Oliver syndrome [RCV000296780] Chr3:119417649..119417652 [GRCh38]
Chr3:119136496..119136499 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3179G>A (p.Gly1060Asp) single nucleotide variant Adams-Oliver syndrome [RCV000296892] Chr3:119415108 [GRCh38]
Chr3:119133955 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2101A>T single nucleotide variant Adams-Oliver syndrome [RCV000297094] Chr3:119418365 [GRCh38]
Chr3:119137212 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.3876A>G (p.Pro1292=) single nucleotide variant Adams-Oliver syndrome [RCV000308915] Chr3:119415805 [GRCh38]
Chr3:119134652 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.349-9_349-7del microsatellite Adams-Oliver syndrome [RCV000352161] Chr3:119380891..119380893 [GRCh38]
Chr3:119099738..119099740 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2110G>A single nucleotide variant Adams-Oliver syndrome [RCV000354053] Chr3:119418374 [GRCh38]
Chr3:119137221 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2912A>G single nucleotide variant Adams-Oliver syndrome [RCV000299575] Chr3:119419176 [GRCh38]
Chr3:119138023 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*38T>G single nucleotide variant Adams-Oliver syndrome [RCV000374386] Chr3:119416302 [GRCh38]
Chr3:119135149 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1233A>G single nucleotide variant Adams-Oliver syndrome [RCV000357308] Chr3:119417497 [GRCh38]
Chr3:119136344 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.-105C>T single nucleotide variant Adams-Oliver syndrome [RCV000376232] Chr3:119294800 [GRCh38]
Chr3:119013647 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.-199C>T single nucleotide variant Adams-Oliver syndrome [RCV000326943] Chr3:119294706 [GRCh38]
Chr3:119013553 [GRCh37]
Chr3:3q13.32
uncertain significance
NM_020754.4(ARHGAP31):c.*1811G>A single nucleotide variant Adams-Oliver syndrome [RCV000342147] Chr3:119418075 [GRCh38]
Chr3:119136922 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*2764C>A single nucleotide variant Adams-Oliver syndrome [RCV000377810] Chr3:119419028 [GRCh38]
Chr3:119137875 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.*1978T>A single nucleotide variant Adams-Oliver syndrome [RCV000397754] Chr3:119418242 [GRCh38]
Chr3:119137089 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.4297del (p.Ser1432_Val1433insTer) deletion not provided [RCV000598615] Chr3:119416226 [GRCh38]
Chr3:119135073 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln) single nucleotide variant not provided [RCV000593125] Chr3:119382312 [GRCh38]
Chr3:119101159 [GRCh37]
Chr3:3q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_020754.4(ARHGAP31):c.4194C>G (p.Val1398=) single nucleotide variant not provided [RCV000731113] Chr3:119416123 [GRCh38]
Chr3:119134970 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.1286C>T (p.Pro429Leu) single nucleotide variant not provided [RCV000434033] Chr3:119402038 [GRCh38]
Chr3:119120885 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.845C>T (p.Thr282Ile) single nucleotide variant not provided [RCV000478615] Chr3:119390947 [GRCh38]
Chr3:119109794 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020754.4(ARHGAP31):c.2019A>G (p.Pro673=) single nucleotide variant not provided [RCV000976616] Chr3:119413948 [GRCh38]
Chr3:119132795 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3463T>C (p.Trp1155Arg) single nucleotide variant not provided [RCV000896631] Chr3:119415392 [GRCh38]
Chr3:119134239 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2520C>G (p.Thr840=) single nucleotide variant not provided [RCV000917677] Chr3:119414449 [GRCh38]
Chr3:119133296 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1597G>A (p.Gly533Arg) single nucleotide variant not provided [RCV000972710] Chr3:119402349 [GRCh38]
Chr3:119121196 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.1383T>A (p.Pro461=) single nucleotide variant not provided [RCV000921463] Chr3:119402135 [GRCh38]
Chr3:119120982 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.618G>A (p.Glu206=) single nucleotide variant not provided [RCV000924164] Chr3:119383162 [GRCh38]
Chr3:119102009 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1145C>T (p.Ser382Phe) single nucleotide variant not provided [RCV000982137] Chr3:119401897 [GRCh38]
Chr3:119120744 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2013G>T (p.Ser671=) single nucleotide variant not provided [RCV000982182] Chr3:119413942 [GRCh38]
Chr3:119132789 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.225A>G (p.Gln75=) single nucleotide variant not provided [RCV000901363] Chr3:119368393 [GRCh38]
Chr3:119087240 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2775C>T (p.Asp925=) single nucleotide variant not provided [RCV000920447] Chr3:119414704 [GRCh38]
Chr3:119133551 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.279G>A (p.Ser93=) single nucleotide variant not provided [RCV000929353] Chr3:119368447 [GRCh38]
Chr3:119087294 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1629A>G (p.Gly543=) single nucleotide variant not provided [RCV000882609] Chr3:119402381 [GRCh38]
Chr3:119121228 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3763C>T (p.Leu1255=) single nucleotide variant not provided [RCV000982478] Chr3:119415692 [GRCh38]
Chr3:119134539 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.639T>C (p.Asp213=) single nucleotide variant not provided [RCV000921399] Chr3:119383183 [GRCh38]
Chr3:119102030 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.150C>T (p.Ile50=) single nucleotide variant not provided [RCV000920581] Chr3:119365365 [GRCh38]
Chr3:119084212 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.702G>A (p.Lys234=) single nucleotide variant not provided [RCV000909713] Chr3:119390804 [GRCh38]
Chr3:119109651 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3069G>A (p.Lys1023=) single nucleotide variant not provided [RCV000896705] Chr3:119414998 [GRCh38]
Chr3:119133845 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile) single nucleotide variant Adams-Oliver syndrome 1 [RCV000791018] Chr3:119416068 [GRCh38]
Chr3:119134915 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1070-10T>G single nucleotide variant not provided [RCV000914434] Chr3:119401812 [GRCh38]
Chr3:119120659 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.540-4G>T single nucleotide variant not provided [RCV000918186] Chr3:119383080 [GRCh38]
Chr3:119101927 [GRCh37]
Chr3:3q13.33
benign
NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln) single nucleotide variant Cyst - pilonidal [RCV001196391] Chr3:119414340 [GRCh38]
Chr3:119133187 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_020754.4(ARHGAP31):c.2853G>A (p.Gln951=) single nucleotide variant not provided [RCV000939089] Chr3:119414782 [GRCh38]
Chr3:119133629 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3882G>A (p.Ser1294=) single nucleotide variant not provided [RCV000982203] Chr3:119415811 [GRCh38]
Chr3:119134658 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.2285A>C (p.Lys762Thr) single nucleotide variant not provided [RCV000896704] Chr3:119414214 [GRCh38]
Chr3:119133061 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3468G>A (p.Arg1156=) single nucleotide variant not provided [RCV000909363] Chr3:119415397 [GRCh38]
Chr3:119134244 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3246A>G (p.Gly1082=) single nucleotide variant not provided [RCV000930676] Chr3:119415175 [GRCh38]
Chr3:119134022 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.696C>A (p.Ile232=) single nucleotide variant not provided [RCV000929167] Chr3:119390798 [GRCh38]
Chr3:119109645 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.1272G>A (p.Gln424=) single nucleotide variant not provided [RCV000942798] Chr3:119402024 [GRCh38]
Chr3:119120871 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.3912A>C (p.Val1304=) single nucleotide variant not provided [RCV000934677] Chr3:119415841 [GRCh38]
Chr3:119134688 [GRCh37]
Chr3:3q13.33
likely benign
NM_020754.4(ARHGAP31):c.100+8_100+9del deletion not provided [RCV000889622] Chr3:119295012..119295013 [GRCh38]
Chr3:119013859..119013860 [GRCh37]
Chr3:3q13.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29216 AgrOrtholog
COSMIC ARHGAP31 COSMIC
Ensembl Genes ENSG00000031081 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264245 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418429 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264245 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000482743 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000031081 GTEx
HGNC ID HGNC:29216 ENTREZGENE
Human Proteome Map ARHGAP31 Human Proteome Map
InterPro Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57514 UniProtKB/Swiss-Prot
NCBI Gene 57514 ENTREZGENE
OMIM 100300 OMIM
  610911 OMIM
Pfam RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165696843 PharmGKB
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.668218 ENTREZGENE
UniProt A0A2X0SF93_HUMAN UniProtKB/TrEMBL
  C9J652_HUMAN UniProtKB/TrEMBL
  Q2M1Z3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9ULL6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 ARHGAP31  Rho GTPase activating protein 31  ARHGAP31  Rho GTPase activating protein 31  Symbol and/or name change 5135510 APPROVED
2011-07-27 ARHGAP31  Rho GTPase activating protein 31  CDGAP  Cdc42 GTPase-activating protein  Symbol and/or name change 5135510 APPROVED