Varaico: Literature-Extracted Genetic Variants

Gene:GNB4
Variant:p.K127R

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.K127R
c.380A>G
Surrounding Variants
1 paper
NM_021629.4
p.L139F
c.417G>T
1 paper
NM_021629.4
p.L139F
c.417G>C
1 paper
NM_021629.4
p.P107L
c.320C>T
1 paper
NM_021629.4
p.V100M
c.298G>A
1 paper
NM_021629.4
p.P94S
c.280C>T
1 paper
NM_021629.4
p.M90L
c.268A>T
1 paper
NM_021629.4
p.M90L
c.268A>C
1 paper
NM_021629.4
p.D154N
c.460G>A
2 papers
NM_021629.4
p.T177N
c.530C>A
1 paper
NM_021629.4
p.F180L
c.540C>G
1 paper
NM_021629.4
p.G185R
c.553G>C
1 paper
NM_021629.4
p.G185R
c.553G>A
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