Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.P252Q

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.P252Q
c.755C>A
Surrounding Variants
6 papers
NM_001822.7
p.P252S
c.754C>T
1 paper
NM_001822.7
p.D254N
c.760G>A
1 paper
NM_001822.7
p.R295T
c.884G>C
1 paper
NM_001822.7
p.G296_L297Fs
c.887_890delinsTTFs
1 paper
NM_001822.7
p.R304G
c.910C>G
1 paper
NM_001822.7
p.Y303delFs
c.908_909delGT
1 paper
NM_001822.7
p.S306*
c.917C>G
1 paper
NM_001822.7
p.S306*
c.917C>A
9 papers
NM_001822.7
p.E313K
c.937G>A
1 paper
NM_001822.7
p.R321T
c.962G>C
1 paper
NM_001822.7
p.D322Splc
c.964+54A>G
1 paper
NM_001822.7
p.D322Splc
c.964+123A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."