Varaico: Literature-Extracted Genetic Variants

Gene:GNB2
Variant:p.R150H

GNB2

80 papers

RefSeq Summary

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits ...

Pfam Domains

WD40_Gbetaaa 1–340UCSCG protein beta WD-40 repeat protein

Gene Aliases

HGNC Name

G protein subunit beta 2

HGNC Previous Name

guanine nucleotide binding protein (G protein), beta polypeptide 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005273.4
p.R150H
c.449G>A
Surrounding Variants
2 papers
NM_005273.4
p.S147S
c.441G>A
1 paper
NM_005273.4
p.D153N
c.457G>A
1 paper
NM_005273.4
p.S147L
c.440C>T
1 paper
NM_005273.4
p.S161C
c.482C>G
1 paper
NM_005273.4
p.D163N
c.487G>A
2 papers
NM_005273.4
p.C166Splc
c.497+3G>A
1 paper
NM_005273.4
p.G144delFs
c.430delG
1 paper
NM_005273.4
p.S136C
c.406A>T
1 paper
NM_005273.4
p.E130D
c.390G>C
1 paper
NM_005273.4
p.E130D
c.390G>T
2 papers
NM_005273.4
p.Y124*
c.372C>A
2 papers
NM_005273.4
p.Y124*
c.372C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."