Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP8

ARHGAP8

43 papers

RefSeq Summary

This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins a...

Pfam Domains

CRAL_TRIO_2aa 32–197UCSCDivergent CRAL/TRIO domain
RhoGAPaa 241–386UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 8

HGNC Alias Symbols

FLJ20185; BPGAP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
2 papers
NM_181335.3
p.R82W
c.244C>T
2 papers
NM_181335.3
p.E207G
c.620A>G
2 papers
NM_181335.3
p.R226C
c.676C>T
2 papers
NM_181335.3
p.V317I
c.949G>A
2 papers
NM_181335.3
p.P384L
c.1151C>T
1 paper
NM_181335.3
p.A2fs
c.4_5fs
1 paper
NM_181335.3
p.D5insFs
c.13_14insT
1 paper
NM_181335.3
p.D5V
c.14A>T
1 paper
NM_181335.3
p.A7insFs
c.19_20insA
1 paper
NM_181335.3
p.S9R
c.25A>C
1 paper
NM_181335.3
p.P13Q
c.38C>A
1 paper
NM_181335.3
p.D16N
c.46G>A
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."