Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP20

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
1–12 of 74 variants
2 papers
NM_001384657.1
p.V24M
c.70G>A
2 papers
NM_001384657.1
p.P442L
c.1325C>T
2 papers
NM_001384657.1
p.D595D
c.1785T>C
2 papers
NM_001384657.1
p.D626N
c.1876G>A
1 paper
NM_001384657.1
p.S5T
c.13T>A
1 paper
NM_001384657.1
p.T10S
c.28A>T
1 paper
NM_001384657.1
p.G23E
c.68G>A
1 paper
NM_001384657.1
p.S25C
c.74C>G
1 paper
NM_001384657.1
p.A28T
c.82G>A
1 paper
NM_001384657.1
p.T39A
c.115A>G
1 paper
NM_001384657.1
p.R63Splc
c.188+5925A>C
1 paper
NM_001384657.1
p.R63Splc
c.188+14404G>T
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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."