Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP8
Variant:p.R42W

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.R42W
c.124C>T
Surrounding Variants
1 paper
NM_181335.3
p.C40C
c.120C>T
1 paper
NM_181335.3
p.V35V
c.105T>A
1 paper
NM_181335.3
p.R33R
c.97A>C
1 paper
NM_181335.3
p.R53W
c.157C>T
1 paper
NM_181335.3
p.D29G
c.86A>G
1 paper
NM_181335.3
p.E56Splc
c.167+1G>A
1 paper
NM_181335.3
p.D69N
c.205G>A
1 paper
NM_181335.3
p.F75F
c.225C>T
1 paper
NM_181335.3
p.S81delFs
c.243delC
1 paper
NM_181335.3
p.R82fs
c.244_245fs
2 papers
NM_181335.3
p.R82W
c.244C>T
1 paper
NM_181335.3
p.A93S
c.277G>T
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