Varaico: Literature-Extracted Genetic Variants

RGS9

105 papers

RefSeq Summary

This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photo...

Pfam Domains

DEPaa 33–103UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

RGS_DHEXaa 106–205UCSCRegulator of G-protein signalling DHEX domain

G-gammaaa 219–283UCSCGGL domain

RGSaa 302–416UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 9

HGNC Alias Symbols

PERRS; RGS9L; MGC26458; MGC111763

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_003835.4

p.W299R

c.895T>A

Surrounding Variants

11 papers

NM_003835.4

p.W299R

c.895T>C

1 paper

NM_003835.4

p.R298Q

c.893G>A

1 paper

NM_003835.4

p.R298L

c.893G>T

1 paper

NM_003835.4

p.A300D

c.899C>A

1 paper

NM_003835.4

p.A300G

c.899C>G

1 paper

NM_003835.4

p.R295L

c.884G>T

1 paper

NM_003835.4

p.R295*

c.883C>T

1 paper

NM_003835.4

p.S304R

c.910A>C

1 paper

NM_003835.4

p.S304R

c.912C>A

1 paper

NM_003835.4

p.S304R

c.912C>G

1 paper

NM_003835.4

p.E305K

c.913G>A

1 paper

NM_003835.4

p.T292A

c.874A>G