Varaico: Literature-Extracted Genetic Variants

Gene:RGS9
Variant:p.Y396C

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
1 paper
NM_003835.4
p.Y396C
c.1187A>G
Surrounding Variants
1 paper
NM_003835.4
p.M397I
c.1191G>A
1 paper
NM_003835.4
p.M397I
c.1191G>C
1 paper
NM_003835.4
p.M397I
c.1191G>T
1 paper
NM_003835.4
p.M399K
c.1196T>A
2 papers
NM_003835.4
p.K400Q
c.1198A>C
1 paper
NM_003835.4
p.A391T
c.1171G>A
1 paper
NM_003835.4
p.A390V
c.1169C>T
1 paper
NM_003835.4
p.A390T
c.1168G>A
2 papers
NM_003835.4
p.D389A
c.1166A>C
1 paper
NM_003835.4
p.L388V
c.1162C>G
1 paper
NM_003835.4
p.V387M
c.1159G>A
1 paper
NM_003835.4
p.R385H
c.1154G>A
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