Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP42
Variant:p.R102Q

ARHGAP42

63 papers

RefSeq Summary

This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded pro...

Pfam Domains

BAR_3aa 6–249UCSCBAR domain of APPL family
PHaa 266–371UCSCPH domain
RhoGAPaa 396–545UCSCRhoGAP domain
SH3_9aa 823–872UCSCVariant SH3 domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 42

HGNC Previous Symbol

TMEM133

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152432.4
p.R102Q
c.305G>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."