Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP6
Variant:p.L504F

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
2 papers
NM_013427.3
p.L504F
c.1512G>C
Surrounding Variants
1 paper
NM_013427.3
p.L504F
c.1512G>T
1 paper
NM_013427.3
p.Q505*
c.1513C>T
1 paper
NM_013427.3
p.Q505E
c.1513C>G
1 paper
NM_013427.3
p.L507R
c.1520T>G
1 paper
NM_013427.3
p.L510V
c.1528C>G
1 paper
NM_013427.3
p.P513S
c.1537C>T
1 paper
NM_013427.3
p.D517N
c.1549G>A
1 paper
NM_013427.3
p.H520D
c.1558C>G
1 paper
NM_013427.3
p.Q524*
c.1570C>T
1 paper
NM_013427.3
p.Q524E
c.1570C>G
1 paper
NM_013427.3
p.R531W
c.1591A>T
1 paper
NM_013427.3
p.K539R
c.1616A>G
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