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

4 papers

NM_006578.4

p.A119delFs

c.355delC

Surrounding Variants

1 paper

NM_016194.4

p.A161T

c.481G>A

4 papers

NM_006578.4

p.A119fs

c.355_356fs

1 paper

NM_016194.4

p.A163P

c.487G>C

1 paper

NM_016194.4

p.G159E

c.476G>A

1 paper

NM_016194.4

p.C153Y

c.458G>A

1 paper

NM_016194.4

p.C147*

c.441C>A

1 paper

NM_006578.4

p.T102A

c.304A>G

1 paper

NM_016194.4

p.A142A

c.426G>T

1 paper

NM_016194.4

p.A142T

c.424G>A

1 paper

NM_016194.4

p.I130insFs

c.388_389insA

3 papers

NM_006578.4

p.D84fs

c.250_251fs

1 paper

NM_016194.4

p.D126N

c.376G>A