Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP1
Variant:p.Y188C

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
2 papers
NM_004308.5
p.Y188C
c.563A>G
Surrounding Variants
1 paper
NM_004308.5
p.G183E
c.548G>A
1 paper
NM_004308.5
p.F180C
c.539T>G
1 paper
NM_004308.5
p.P207L
c.620C>T
1 paper
NM_004308.5
p.P163L
c.488C>T
1 paper
NM_004308.5
p.K212Splc
c.636-54C>T
1 paper
NM_004308.5
p.K153del1
c.457_458delTTT
1 paper
NM_004308.5
p.S245L
c.734C>T
1 paper
NM_004308.5
p.I261T
c.782T>C
4 papers
NM_004308.5
p.L263F
c.787C>T
1 paper
NM_004308.5
p.R264G
c.790A>G
1 paper
NM_004308.5
p.G279D
c.836G>A
1 paper
NM_004308.5
p.R283T
c.848G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."