Varaico: Literature-Extracted Genetic Variants

Gene:CHN1

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
1–12 of 100 variants
10 papers
NM_001822.7
p.L20F
c.60A>T
10 papers
NM_001822.7
p.L20F
c.60A>C
10 papers
NM_001822.7
p.A223V
c.668C>T
10 papers
NM_001822.7
p.P252Q
c.755C>A
9 papers
NM_001822.7
p.Y143H
c.427T>C
9 papers
NM_001822.7
p.G228S
c.682G>A
9 papers
NM_001822.7
p.E313K
c.937G>A
6 papers
NM_001822.7
p.P252S
c.754C>T
5 papers
NM_001822.7
p.I126M
c.378T>G
5 papers
NM_001822.7
p.P141L
c.422C>T
5 papers
NM_001822.7
p.Y148F
c.443A>T
3 papers
NM_001822.7
p.Y21C
c.62A>G
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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."