Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP8
Variant:p.L272R

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
Selected Variant
1 paper
NM_181335.3
p.L272R
c.815T>G
Surrounding Variants
1 paper
NM_181335.3
p.Y285*
c.855C>G
1 paper
NM_181335.3
p.V237M
c.709G>A
2 papers
NM_181335.3
p.R226C
c.676C>T
1 paper
NM_181335.3
p.E222K
c.664G>A
1 paper
NM_181335.3
p.V217fs
c.649_650fs
1 paper
NM_181335.3
p.V212insFs
c.636dupG
1 paper
NM_181335.3
p.P210T
c.628C>A
2 papers
NM_181335.3
p.E207G
c.620A>G
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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."