Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP1

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
1–12 of 63 variants
4 papers
NM_004308.5
p.L263F
c.787C>T
3 papers
NM_004308.5
p.S17N
c.50G>A
2 papers
NM_004308.5
p.E18K
c.52G>A
2 papers
NM_004308.5
p.L99F
c.295C>T
2 papers
NM_004308.5
p.Y188C
c.563A>G
1 paper
NM_004308.5
p.M1insFs
c.2dupT
1 paper
NM_004308.5
p.P3L
c.8C>T
1 paper
NM_004308.5
p.P3delFs
c.8delG
1 paper
NM_004308.5
p.N21Y
c.61A>T
1 paper
NM_004308.5
p.S27A
c.79T>G
1 paper
NM_004308.5
p.S47C
c.140C>G
1 paper
NM_004308.5
p.S49R
c.147C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."