Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.T138A

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
1 paper
NM_001822.7
p.T138A
c.412A>G
Surrounding Variants
5 papers
NM_001822.7
p.P141L
c.422C>T
9 papers
NM_001822.7
p.Y143H
c.427T>C
1 paper
NM_001822.7
p.H145Q
c.435C>G
1 paper
NM_001822.7
p.H145Q
c.435C>A
5 papers
NM_001822.7
p.Y148F
c.443A>T
5 papers
NM_001822.7
p.I126M
c.378T>G
1 paper
NM_001822.7
p.I126T
c.377T>C
1 paper
NM_001822.7
p.D119N
c.355G>A
1 paper
NM_001822.7
p.V117L
c.349G>T
1 paper
NM_001822.7
p.V117L
c.349G>C
1 paper
NM_001822.7
p.D115Y
c.343G>T
1 paper
NM_001822.7
p.D115N
c.343G>A
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