Varaico: Literature-Extracted Genetic Variants

Gene:GNB4
Variant:p.R46*

GNB4

63 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 4

HGNC Previous Name

guanine nucleotide binding protein (G protein), beta polypeptide 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021629.4
p.R46*
c.136C>T
Surrounding Variants
2 papers
NM_021629.4
p.R42Q
c.125G>A
2 papers
NM_021629.4
p.S39S
c.117T>C
1 paper
NM_021629.4
p.R52R
c.156G>A
9 papers
NM_021629.4
p.G53D
c.158G>A
7 papers
NM_021629.4
p.K57E
c.169A>G
1 paper
NM_021629.4
p.Q32_I33Splc
c.97-1G>T
1 paper
NM_021629.4
p.A60G
c.179C>G
2 papers
NM_021629.4
p.H62H
c.186T>C
1 paper
NM_021629.4
p.T29M
c.86C>T
4 papers
NM_021629.4
p.G77R
c.229G>C
4 papers
NM_021629.4
p.G77R
c.229G>A
1 paper
NM_021629.4
p.I80T
c.239T>C
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