Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP20
Variant:p.G342V

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
1 paper
NM_001384657.1
p.G342V
c.1025G>T
Surrounding Variants
1 paper
NM_001384657.1
p.T345I
c.1034C>T
1 paper
NM_001384657.1
p.N349H
c.1045A>C
1 paper
NM_001384657.1
p.L381_D382Splc
c.1144-95C>T
1 paper
NM_001384657.1
p.D382H
c.1144G>C
1 paper
NM_001384657.1
p.S416T
c.1246T>A
1 paper
NM_001384657.1
p.S432Y
c.1295C>A
2 papers
NM_001384657.1
p.P442L
c.1325C>T
1 paper
NM_001384657.1
p.D452G
c.1355A>G
1 paper
NM_001384657.1
p.D459Y
c.1375G>T
1 paper
NM_001384657.1
p.D475Y
c.1423G>T
1 paper
NM_001384657.1
p.L477V
c.1429C>G
1 paper
NM_001384657.1
p.P478R
c.1433C>G
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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."