Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.R147H

GNA11

800 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G pr...

Pfam Domains

G-alphaaa 19–348UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha 11

HGNC Previous Symbol

HHC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002067.5
p.R147H
c.440G>A
Surrounding Variants
1 paper
NM_002067.5
p.Y145F
c.434A>T
6 papers
NM_002067.5
p.R149H
c.446G>A
1 paper
NM_002067.5
p.R149_E150insFs
c.447_448ins4
1 paper
NM_002067.5
p.Q152*
c.454C>T
1 paper
NM_002067.5
p.L153V
c.457C>G
1 paper
NM_002067.5
p.L153F
c.457C>T
1 paper
NM_002067.5
p.L153delFs
c.459delC
1 paper
NM_002067.5
p.P139P
c.417G>A
1 paper
NM_002067.5
p.P139R
c.416C>G
1 paper
NM_002067.5
p.P139S
c.415C>T
1 paper
NM_002067.5
p.D138Y
c.412G>T
6 papers
NM_002067.5
p.A157T
c.469G>A
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