Varaico: Literature-Extracted Genetic Variants

Gene:GNB5

GNB5

93 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

WD40aa 95–133UCSCWD domain, G-beta repeat
WD40aa 138–174UCSCWD domain, G-beta repeat
WD40aa 187–223UCSCWD domain, G-beta repeat
WD40aa 227–267UCSCWD domain, G-beta repeat
WD40aa 271–309UCSCWD domain, G-beta repeat
WD40aa 322–353UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

G protein subunit beta 5

HGNC Alias Symbol

GB5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
7 papers
NM_006578.4
p.S81L
c.242C>T
7 papers
NM_016194.4
p.S123L
c.368C>T
6 papers
NM_006578.4
p.Y302*
c.906C>G
6 papers
NM_016194.4
p.Y344*
c.1032C>G
6 papers
NM_006578.4
p.Y302*
c.906C>A
6 papers
NM_016194.4
p.Y344*
c.1032C>A
5 papers
NM_016194.4
p.E46delFs
c.136delC
4 papers
NM_006578.4
p.A119fs
c.355_356fs
4 papers
NM_006578.4
p.A119delFs
c.355delC
4 papers
NM_016194.4
p.D302E
c.906C>G
4 papers
NM_016194.4
p.D302E
c.906C>A
3 papers
NM_016194.4
p.V83V
c.249G>A
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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."