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

5 papers

NM_016194.4

p.E46delFs

c.136delC

Surrounding Variants

2 papers

NM_016194.4

p.E46fs

c.136_137fs

1 paper

NM_016194.4

p.E46fs

c.136_137fs

1 paper

NM_016194.4

p.T45S

c.134C>G

1 paper

NM_016194.4

p.T45S

c.133A>T

1 paper

NM_016194.4

p.M43T

c.128T>C

1 paper

NM_016194.4

p.S59N

c.176G>A

1 paper

NM_016194.4

p.G66C

c.196G>T

1 paper

NM_016194.4

p.L68L

c.202C>T

1 paper

NM_016194.4

p.G66_E70del5

c.196_209del15

1 paper

NM_016194.4

p.E41K

c.121G>A

1 paper

NM_016194.4

p.A40G

c.119C>G

1 paper

NM_016194.4

p.S30insFs

c.88_89ins4