Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP6
Variant:p.S134R

ARHGAP6

76 papers

RefSeq Summary

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is though...

Pfam Domains

RhoGAPaa 411–567UCSCRhoGAP domain
RhoGAPaa 411–567UCSCRhoGAP domain
XAC1aa 799–965UCSCPBP1-interacting protein XAC1

Gene Aliases

HGNC Name

Rho GTPase activating protein 6

HGNC Alias Symbol

rhoGAPX-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013427.3
p.S134R
c.402C>G
Surrounding Variants
1 paper
NM_013427.3
p.M135I
c.405G>T
1 paper
NM_013427.3
p.M135I
c.405G>C
1 paper
NM_013427.3
p.M135I
c.405G>A
1 paper
NM_013427.3
p.A136T
c.406G>A
1 paper
NM_013427.3
p.L131delFs
c.393delG
1 paper
NM_013427.3
p.W137C
c.411G>T
1 paper
NM_013427.3
p.W137C
c.411G>C
1 paper
NM_013427.3
p.D138N
c.412G>A
1 paper
NM_013427.3
p.G130D
c.389G>A
1 paper
NM_013427.3
p.G130R
c.388G>C
1 paper
NM_013427.3
p.G130S
c.388G>A
1 paper
NM_013427.3
p.G129G
c.387C>G
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