Varaico: Literature-Extracted Genetic Variants

Gene:CHN2
Variant:p.E20D

CHN2

42 papers

RefSeq Summary

This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein tran...

Pfam Domains

SH2aa 60–129UCSCSH2 domain
SH2aa 73–142UCSCSH2 domain
C1_1aa 79–131UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C1_1aa 215–267UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
RhoGAPaa 304–453UCSCRhoGAP domain

Gene Aliases

HGNC Name

chimerin 2

HGNC Alias Symbol

RhoGAP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004067.4
p.E20D
c.60A>T
Surrounding Variants
1 paper
NM_004067.4
p.Y21F
c.62A>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."