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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHN1

Variant:p.Y21C

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr2:174944940 T>C

NM_001822.7

p.Y21C

c.62A>G

exact variant not in gnomAD131 overlapping SVs

Surrounding Variants

10 papers

chr2:174944942 T>A

NM_001822.7

p.L20F

c.60A>T

exact variant not in gnomAD131 overlapping SVs

10 papers

chr2:174944942 T>G

NM_001822.7

p.L20F

c.60A>C

exact variant not in gnomAD131 overlapping SVs

2 papers

chr2:174944922 G>C

NM_001822.7

p.A27G

c.80C>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)131 overlapping SVs

1 paper

chr2:174944888 C>T

NM_001822.7

p.E38E

c.114G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a131 overlapping SVs

1 paper

chr2:174952042 C>A

NM_001822.7

p.L20Splc

c.58+122G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a132 overlapping SVs

1 paper

chr2:174952177 A>T

NM_001822.7

p.V15V

c.45T>A

exact variant not in gnomAD132 overlapping SVs

1 paper

chr2:174952185 G>T

NM_001822.7

p.P13T

c.37C>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)132 overlapping SVs

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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."