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.K77R

c.230A>G

Surrounding Variants

1 paper

NM_001394167.1

p.T78_Q79del2

c.232_236del6

3 papers

NM_001394167.1

p.K77N

c.231G>T

1 paper

NM_001394167.1

p.R74H

c.221G>A

1 paper

NM_001394167.1

p.R74G

c.220C>G

1 paper

NM_001394167.1

p.V81L

c.241G>C

1 paper

NM_001394167.1

p.V81D

c.242T>A

1 paper

NM_001394167.1

p.P82_D83del2

c.244_248del6

1 paper

NM_001394167.1

p.D83G

c.248A>G

1 paper

NM_001394167.1

p.E69G

c.206A>G

1 paper

NM_001394167.1

p.R85K

c.254G>A

1 paper

NM_001394167.1

p.H90Y

c.268C>T

1 paper

NM_001394167.1

p.V62V

c.186G>T