Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.A223V

CHN1

109 papers

RefSeq Summary

This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction ...

Pfam Domains

SH2aa 50–119UCSCSH2 domain
C1_1aa 206–258UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
RhoGAPaa 282–431UCSCRhoGAP domain

Gene Aliases

HGNC Name

chimerin 1

HGNC Previous Symbol

DURS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_001822.7
p.A223V
c.668C>T
Surrounding Variants
1 paper
NM_001822.7
p.A223T
c.667G>A
2 papers
NM_001822.7
p.N224S
c.671A>G
1 paper
NM_001822.7
p.Y221C
c.662A>G
1 paper
NM_001822.7
p.Y221S
c.662A>C
3 papers
NM_001822.7
p.Y221H
c.661T>C
1 paper
NM_001822.7
p.E220G
c.659A>G
9 papers
NM_001822.7
p.G228S
c.682G>A
2 papers
NM_001822.7
p.H217R
c.650A>G
2 papers
NM_001822.7
p.G215R
c.643G>C
2 papers
NM_001822.7
p.G215R
c.643G>A
1 paper
NM_001822.7
p.F213L
c.639C>G
1 paper
NM_001822.7
p.F213L
c.639C>A
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