Varaico: Literature-Extracted Genetic Variants

GNB1

262 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

WD40_Gbetaaa 1–240UCSCG protein beta WD-40 repeat protein

WD40_Gbetaaa 1–340UCSCG protein beta WD-40 repeat protein

Gene Aliases

HGNC Name

G protein subunit beta 1

HGNC Previous Name

guanine nucleotide binding protein (G protein), beta polypeptide 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002074.5

p.A73T

c.217G>A

Surrounding Variants

1 paper

NM_002074.5

p.A73S

c.217G>T

1 paper

NM_002074.5

p.A73P

c.217G>C

4 papers

NM_002074.5

p.S74L

c.221C>T

1 paper

NM_002074.5

p.V71V

c.213C>T

1 paper

NM_002074.5

p.S74S

c.222G>A

1 paper

NM_002074.5

p.Q75*

c.223C>T

1 paper

NM_002074.5

p.L70L

c.210C>T

1 paper

NM_002074.5

p.Q75R

c.224A>G

4 papers

NM_002074.5

p.D76N

c.226G>A

14 papers

NM_002074.5

p.D76G

c.227A>G

6 papers

NM_002074.5

p.D76E

c.228T>G

6 papers

NM_002074.5

p.D76E

c.228T>A