Varaico: Literature-Extracted Genetic Variants

Gene:RGS6
Variant:p.E295*

RGS6

57 papers

RefSeq Summary

This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these prot...

Pfam Domains

DEPaa 43–113UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
RGS_DHEXaa 116–217UCSCRegulator of G-protein signalling DHEX domain
G-gammaaa 255–319UCSCGGL domain
RGSaa 336–450UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 6

HGNC Previous Names

regulator of G-protein signalling 6; regulator of G-protein signaling 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001204424.2
p.E295*
c.883G>T
Surrounding Variants
1 paper
NM_001204424.2
p.E295D
c.885A>C
1 paper
NM_001204424.2
p.E295D
c.885A>T
2 papers
NM_001204424.2
p.Y296*
c.888T>A
2 papers
NM_001204424.2
p.Y296*
c.888T>G
1 paper
NM_001204424.2
p.Q292P
c.875A>C
1 paper
NM_001204424.2
p.P298T
c.892C>A
1 paper
NM_001204424.2
p.L299W
c.896T>G
2 papers
NM_001204424.2
p.T290M
c.869C>T
1 paper
NM_001204424.2
p.T301A
c.901A>G
1 paper
NM_001204424.2
p.T301I
c.902C>T
1 paper
NM_001204424.2
p.A288T
c.862G>A
2 papers
NM_001204424.2
p.S311N
c.932G>A
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