Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP8
Variant:p.K418Q

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.K418Q
c.1252A>C
Surrounding Variants
1 paper
NM_181335.3
p.P422A
c.1264C>G
1 paper
NM_181335.3
p.R432H
c.1295G>A
1 paper
NM_181335.3
p.P403S
c.1207C>T
1 paper
NM_181335.3
p.E389K
c.1165G>A
2 papers
NM_181335.3
p.P384L
c.1151C>T
1 paper
NM_181335.3
p.Y376Y
c.1128C>T
1 paper
NM_181335.3
p.N367N
c.1101C>T
1 paper
NM_181335.3
p.R330L
c.989G>T
1 paper
NM_181335.3
p.Y320Y
c.960C>T
2 papers
NM_181335.3
p.V317I
c.949G>A
1 paper
NM_181335.3
p.H313P
c.938A>C
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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."