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

11 papers

NM_006578.4

p.Y302*

c.906C>A

NM_016194.4

p.Y344*

c.1032C>A

Surrounding Variants

11 papers

NM_006578.4

p.Y302*

c.906C>G

NM_016194.4

p.Y344*

c.1032C>G

1 paper

NM_006578.4

p.I307S

c.920T>G

1 paper

NM_016194.4

p.V351F

c.1051G>T

1 paper

NM_016194.4

p.D353A

c.1058A>C

1 paper

NM_016194.4

p.F364fs

c.1090_1091fs

1 paper

NM_016194.4

p.F364delFs

c.1092delA

3 papers

NM_006578.4

p.R332*

c.994C>T

2 papers

NM_016194.4

p.P377L

c.1130C>T

1 paper

NM_016194.4

p.D388_H389insA

c.1162_1166ins3

1 paper

NM_006578.4

p.D346A

c.1037A>C

1 paper

NM_006578.4

p.L349delFs

c.1047delG

1 paper

NM_016194.4

p.G337Splc

c.1009+538A>T