Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP20
Variant:p.D595D

ARHGAP20

72 papers

RefSeq Summary

The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016].

Pfam Domains

RHG20_PHaa 86–178UCSCRho GTPase-activating protein 20, PH domain
RAaa 194–283UCSCRas association (RalGDS/AF-6) domain
RhoGAPaa 377–522UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 20

HGNC Alias Symbol

KIAA1391

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001384657.1
p.D595D
c.1785T>C
Surrounding Variants
1 paper
NM_001384657.1
p.D622N
c.1864G>A
2 papers
NM_001384657.1
p.D626N
c.1876G>A
1 paper
NM_001384657.1
p.Q627E
c.1879C>G
1 paper
NM_001384657.1
p.Q650P
c.1949A>C
1 paper
NM_001384657.1
p.M651T
c.1952T>C
1 paper
NM_001384657.1
p.T666K
c.1997C>A
1 paper
NM_001384657.1
p.R699*
c.2095C>T
1 paper
NM_001384657.1
p.R702H
c.2105G>A
1 paper
NM_001384657.1
p.S707G
c.2119A>G
1 paper
NM_001384657.1
p.L715I
c.2143C>A
1 paper
NM_001384657.1
p.Q737K
c.2209C>A
1 paper
NM_001384657.1
p.K758K
c.2274A>G
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