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

14 papers

NM_006578.4

p.S81L

c.242C>T

NM_016194.4

p.S123L

c.368C>T

Surrounding Variants

2 papers

NM_006578.4

p.S81W

c.242C>G

NM_016194.4

p.S123W

c.368C>G

1 paper

NM_006578.4

p.S81*

c.242C>A

1 paper

NM_016194.4

p.S123P

c.367T>C

3 papers

NM_006578.4

p.Q83Q

c.249G>A

3 papers

NM_006578.4

p.Q83_D84Splc

c.249+1G>T

1 paper

NM_006578.4

p.Q83_D84Splc

c.249+3A>G

2 papers

NM_006578.4

p.D74_R76delFs

c.222_226del5

3 papers

NM_006578.4

p.D74fs

c.220_221fs

2 papers

NM_006578.4

p.L59P

c.176T>C

NM_016194.4

p.L101P

c.302T>C

1 paper

NM_006578.4

p.E46fs

c.136_137fs

2 papers

NM_006578.4

p.E46delFs

c.136delC

NM_016194.4

p.E88delFs

c.262delC

1 paper

NM_016194.4

p.E88_A89ins4

c.262_266ins12