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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGAP20

Variant:p.S5T

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:110712219 A>T

NM_001384657.1

p.S5T

c.13T>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a19 overlapping SVs

Surrounding Variants

1 paper

chr11:110712204 T>A

NM_001384657.1

p.T10S

c.28A>T

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:110712164 C>T

NM_001384657.1

p.G23E

c.68G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

2 papers

chr11:110712162 C>T

NM_001384657.1

p.V24M

c.70G>A

Exome: 0.2% (AC=1856, hom=5)Genome: 0.2% (AC=280, hom=1)18 overlapping SVs

1 paper

chr11:110712158 G>C

NM_001384657.1

p.S25C

c.74C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:110712150 C>T

NM_001384657.1

p.A28T

c.82G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

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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."