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

1–12 of 262 variants

3 papers

NM_001394167.1

p.K77N

c.231G>T

2 papers

NM_001394167.1

p.R7C

c.19C>T

2 papers

NM_001394167.1

p.V8I

c.22G>A

2 papers

NM_001394167.1

p.R14C

c.40C>T

2 papers

NM_001394167.1

p.P17S

c.49C>T

2 papers

NM_001394167.1

p.P217S

c.649C>T

2 papers

NM_001394167.1

p.E248E

c.744G>A

1 paper

NM_001394167.1

p.E2A

c.5A>C

1 paper

NM_001394167.1

p.R3C

c.7C>T

1 paper

NM_001394167.1

p.R3H

c.8G>A

1 paper

NM_001394167.1

p.R3P

c.8G>C

1 paper

NM_001394167.1

p.L5P

c.14T>C