Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP1
Variant:p.K80M

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.K80M
c.239A>T
Surrounding Variants
1 paper
NM_004308.5
p.Y81F
c.242A>T
1 paper
NM_004308.5
p.I86N
c.257T>A
1 paper
NM_004308.5
p.R92Q
c.275G>A
1 paper
NM_004308.5
p.M93V
c.277A>G
2 papers
NM_004308.5
p.L99F
c.295C>T
1 paper
NM_004308.5
p.D113E
c.339C>G
1 paper
NM_004308.5
p.D113E
c.339C>A
1 paper
NM_004308.5
p.L123L
c.369G>C
1 paper
NM_004308.5
p.S136F
c.407C>T
1 paper
NM_004308.5
p.W139*
c.416G>A
1 paper
NM_004308.5
p.W139*
c.417G>A
1 paper
NM_004308.5
p.K153del1
c.457_458delTTT
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."