Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_016194.4

p.R288Splc

c.864-50C>A

Surrounding Variants

2 papers

NM_016194.4

p.R288W

c.862C>T

4 papers

NM_006578.4

p.R246Q

c.737G>A

NM_016194.4

p.R288Q

c.863G>A

4 papers

NM_016194.4

p.D302E

c.906C>G

4 papers

NM_016194.4

p.D302E

c.906C>A

1 paper

NM_016194.4

p.T304T

c.912G>A

1 paper

NM_006578.4

p.L265R

c.794T>G

NM_016194.4

p.L307R

c.920T>G

1 paper

NM_016194.4

p.D309Y

c.925G>T

1 paper

NM_016194.4

p.E315K

c.943G>A

1 paper

NM_016194.4

p.G337Splc

c.1009+538A>T

11 papers

NM_006578.4

p.Y302*

c.906C>G

NM_016194.4

p.Y344*

c.1032C>G

11 papers

NM_006578.4

p.Y302*

c.906C>A

NM_016194.4

p.Y344*

c.1032C>A

1 paper

NM_006578.4

p.I307S

c.920T>G