Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP27

ARHGAP27

53 papers

RefSeq Summary

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. ...

Pfam Domains

WWaa 48–78UCSCWW domain
WWaa 101–131UCSCWW domain
PHaa 297–412UCSCPH domain
RhoGAPaa 511–659UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 27

HGNC Previous Symbol

SH3D20

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
4 papers
NM_001282290.2
p.A117T
c.349G>A
3 papers
NM_001282290.2
p.P213R
c.638C>G
2 papers
NM_001282290.2
p.V658M
c.1972G>A
1 paper
NM_001282290.2
p.M1V
c.1A>G
1 paper
NM_001282290.2
p.V5M
c.13G>A
1 paper
NM_001282290.2
p.F17L
c.49T>C
1 paper
NM_001282290.2
p.F17L
c.51C>G
1 paper
NM_001282290.2
p.F17L
c.51C>A
1 paper
NM_001282290.2
p.E18V
c.53A>T
1 paper
NM_001282290.2
p.V27M
c.79G>A
1 paper
NM_001282290.2
p.A28V
c.83C>T
1 paper
NM_001282290.2
p.P31T
c.91C>A
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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."