Varaico: Literature-Extracted Genetic Variants

RGS3

46 papers

RefSeq Summary

This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing ...

Pfam Domains

C2aa 38–146UCSCC2 domain

RGSaa 43–158UCSCRegulator of G protein signaling domain

C2aa 150–258UCSCC2 domain

PDZaa 187–261UCSCPDZ domain

PDZaa 299–373UCSCPDZ domain

Gene Aliases

HGNC Name

regulator of G protein signaling 3

HGNC Alias Symbols

C2PA; FLJ20370; PDZ-RGS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394167.1

p.E234D

c.702G>T

Surrounding Variants

1 paper

NM_001394167.1

p.E234D

c.702G>C

1 paper

NM_001394167.1

p.Q231E

c.691C>G

1 paper

NM_001394167.1

p.E238E

c.714G>A

1 paper

NM_001394167.1

p.T228T

c.684G>C

1 paper

NM_001394167.1

p.L245L

c.733C>T

1 paper

NM_001394167.1

p.G222R

c.664G>C

2 papers

NM_001394167.1

p.E248E

c.744G>A

2 papers

NM_001394167.1

p.P217S

c.649C>T

1 paper

NM_001394167.1

p.G215A

c.644G>C

1 paper

NM_001394167.1

p.M263V

c.787A>G

1 paper

NM_001394167.1

p.M263T

c.788T>C

1 paper

NM_001394167.1

p.P265S

c.793C>T