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.A40G

c.119C>G

Surrounding Variants

1 paper

NM_016194.4

p.E41K

c.121G>A

1 paper

NM_016194.4

p.S30insFs

c.88_89ins4

1 paper

NM_016194.4

p.K29N

c.87G>T

1 paper

NM_016194.4

p.K29N

c.87G>C

1 paper

NM_016194.4

p.A22_R24delFs

c.66_70del5

1 paper

NM_016194.4

p.R21delFs

c.62delC

1 paper

NM_016194.4

p.R21Q

c.62G>A

1 paper

NM_016194.4

p.R21*

c.61C>T

1 paper

NM_016194.4

p.R21fs

c.61_62fs

1 paper

NM_016194.4

p.G12fs

c.34_35fs

1 paper

NM_016194.4

p.V8I

c.22G>A

1 paper

NM_016194.4

p.L7V

c.19C>G