Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP20
Variant:p.R926T

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.R926T
c.2777G>C
Surrounding Variants
1 paper
NM_001384657.1
p.K921_L923del3
c.2761_2768del9
1 paper
NM_001384657.1
p.P931S
c.2791C>T
1 paper
NM_001384657.1
p.T969T
c.2907T>A
1 paper
NM_001384657.1
p.P990S
c.2968C>T
1 paper
NM_001384657.1
p.A995V
c.2984C>T
1 paper
NM_001384657.1
p.S999A
c.2995T>G
1 paper
NM_001384657.1
p.Q853H
c.2559G>T
1 paper
NM_001384657.1
p.Q853H
c.2559G>C
1 paper
NM_001384657.1
p.Q853R
c.2558A>G
1 paper
NM_001384657.1
p.S999S
c.2997C>T
1 paper
NM_001384657.1
p.G1003S
c.3007G>A
1 paper
NM_001384657.1
p.L836F
c.2506C>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."