Varaico: Literature-Extracted Genetic Variants

Gene:RGS9
Variant:p.V200E

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.V200E
c.599T>A
Surrounding Variants
1 paper
NM_003835.4
p.D202N
c.604G>A
1 paper
NM_003835.4
p.D202G
c.605A>G
1 paper
NM_003835.4
p.G204S
c.610G>A
1 paper
NM_003835.4
p.L205P
c.614T>C
1 paper
NM_003835.4
p.P195T
c.583C>A
1 paper
NM_003835.4
p.D206N
c.616G>A
3 papers
NM_003835.4
p.R207*
c.619C>T
1 paper
NM_003835.4
p.R207Q
c.620G>A
1 paper
NM_003835.4
p.R207L
c.620G>T
1 paper
NM_003835.4
p.T209I
c.626C>T
1 paper
NM_003835.4
p.N210S
c.629A>G
1 paper
NM_003835.4
p.N210I
c.629A>T
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