Varaico: Literature-Extracted Genetic Variants

CHN2

42 papers

RefSeq Summary

This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein tran...

Pfam Domains

SH2aa 60–129UCSCSH2 domain

SH2aa 73–142UCSCSH2 domain

C1_1aa 79–131UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 215–267UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

RhoGAPaa 304–453UCSCRhoGAP domain

Gene Aliases

HGNC Name

chimerin 2

HGNC Alias Symbol

RhoGAP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004067.4

p.R178*

c.532A>T

Surrounding Variants

1 paper

NM_004067.4

p.I156V

c.466A>G

2 papers

NM_004067.4

p.Y153F

c.458A>T

1 paper

NM_004067.4

p.I152M

c.456C>G

1 paper

NM_004067.4

p.Y143H

c.427T>C

1 paper

NM_004067.4

p.H113N

c.337C>A

1 paper

NM_004067.4

p.H109Y

c.325C>T

1 paper

NM_004067.4

p.N100S

c.299A>G

1 paper

NM_004067.4

p.N100D

c.298A>G

1 paper

NM_004067.4

p.G90E

c.269G>A

1 paper

NM_004067.4

p.P89S

c.265C>T

1 paper

NM_004067.4

p.V76M

c.226G>A

1 paper

NM_004067.4

p.R58I

c.173G>T