Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP1
Variant:p.S50R

ARHGAP1

126 papers

RefSeq Summary

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts wi...

Pfam Domains

CRAL_TRIO_2aa 82–216UCSCDivergent CRAL/TRIO domain
RhoGAPaa 260–405UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 1

HGNC Alias Symbols

RhoGAP; p50rhoGAP; CDC42GAP; Cdc42GAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004308.5
p.S50R
c.150C>A
Surrounding Variants
1 paper
NM_004308.5
p.S51A
c.151T>G
1 paper
NM_004308.5
p.S50C
c.148A>T
1 paper
NM_004308.5
p.S49R
c.147C>A
1 paper
NM_004308.5
p.P52L
c.155C>T
1 paper
NM_004308.5
p.S47C
c.140C>G
1 paper
NM_004308.5
p.D61Y
c.181G>T
1 paper
NM_004308.5
p.D62insFs
c.185_186insA
1 paper
NM_004308.5
p.H70Y
c.208C>T
1 paper
NM_004308.5
p.I72F
c.214A>T
1 paper
NM_004308.5
p.S27A
c.79T>G
1 paper
NM_004308.5
p.N21Y
c.61A>T
2 papers
NM_004308.5
p.E18K
c.52G>A
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