ARHGAP31 Chromosome 3
Rho GTPase activating protein 31
Upload your DNA to see your personal genotypes for variants in ARHGAP31.
What This Gene Does
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Rho GTPase activating proteins
Locus Type
gene with protein product
Location
3q13.32-q13.33
Ensembl
ENSG00000031081
Associated Conditions (4)
ARHGAP31-related disorder
Inborn genetic diseases
Adams-Oliver syndrome 1
Cerebral palsy
Key Variants
RS12107254
Conflicting classifications of pathogenicity
ARHGAP31-related disorder, Inborn genetic diseases, ARHGAP31-related disorder
Health Risk
RS139659618
Conflicting classifications of pathogenicity
ARHGAP31-related disorder, Inborn genetic diseases, ARHGAP31-related disorder
Health Risk
RS139733647
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147415811
Conflicting classifications of pathogenicity
ARHGAP31-related disorder, Adams-Oliver syndrome 1, ARHGAP31-related disorder
Health Risk
RS200204811
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 1, Inborn genetic diseases, Adams-Oliver syndrome 1
Health Risk
RS200205441
Conflicting classifications of pathogenicity
Inborn genetic diseases, ARHGAP31-related disorder, Inborn genetic diseases
Health Risk
RS200233879
Conflicting classifications of pathogenicity
ARHGAP31-related disorder, ARHGAP31-related disorder
Health Risk
RS200598971
Conflicting classifications of pathogenicity
Inborn genetic diseases, ARHGAP31-related disorder, Inborn genetic diseases
Health Risk
RS200969346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201206374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201216830
Conflicting classifications of pathogenicity
Health Risk
RS201291375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12107254 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, Inborn genetic diseases, ARHGAP31-related disorder |
| RS139659618 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, Inborn genetic diseases, ARHGAP31-related disorder |
| RS139733647 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147415811 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, Adams-Oliver syndrome 1, ARHGAP31-related disorder |
| RS200204811 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 1, Inborn genetic diseases, Adams-Oliver syndrome 1 |
| RS200205441 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ARHGAP31-related disorder, Inborn genetic diseases |
| RS200233879 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, ARHGAP31-related disorder |
| RS200598971 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ARHGAP31-related disorder, Inborn genetic diseases |
| RS200969346 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201206374 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201216830 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201291375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201519981 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201927115 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, ARHGAP31-related disorder |
| RS201970872 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2472878404 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369750406 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372301689 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, ARHGAP31-related disorder |
| RS374149626 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, Inborn genetic diseases, ARHGAP31-related disorder |
| RS374184198 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534166705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Adams-Oliver syndrome 1, Inborn genetic diseases |
| RS747126561 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 1, Adams-Oliver syndrome 1 |
| RS755079949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760356067 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ARHGAP31-related disorder, Inborn genetic diseases |
| RS763215003 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771210000 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771980065 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772715426 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773084870 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773314411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774009946 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 1, Inborn genetic diseases, Adams-Oliver syndrome 1 |
| RS777419017 | Health Risk | Conflicting classifications of pathogenicity | ARHGAP31-related disorder, Inborn genetic diseases, ARHGAP31-related disorder |
| RS9852894 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 1, Inborn genetic diseases, Adams-Oliver syndrome 1 |
| RS2107644554 | Health Risk | Likely pathogenic | Cerebral palsy, Cerebral palsy |
| RS1553768038 | Health Risk | Pathogenic | Adams-Oliver syndrome 1, Adams-Oliver syndrome 1 |
| RS1559999373 | Health Risk | Pathogenic | Adams-Oliver syndrome 1, Adams-Oliver syndrome 1 |
| RS387907031 | Health Risk | Pathogenic | Adams-Oliver syndrome 1, Adams-Oliver syndrome 1 |