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

2 papers

NM_002074.5

p.G116V

c.347G>T

Surrounding Variants

3 papers

NM_002074.5

p.G116D

c.347G>A

1 paper

NM_002074.5

p.G116R

c.346G>C

7 papers

NM_002074.5

p.G116S

c.346G>A

1 paper

NM_002074.5

p.L117M

c.349C>A

1 paper

NM_002074.5

p.G115C

c.343G>T

1 paper

NM_002074.5

p.G115R

c.343G>C

2 papers

NM_002074.5

p.G115S

c.343G>A

6 papers

NM_002074.5

p.D118Y

c.352G>T

3 papers

NM_002074.5

p.D118H

c.352G>C

1 paper

NM_002074.5

p.C114C

c.342C>T

6 papers

NM_002074.5

p.C114Y

c.341G>A

1 paper

NM_002074.5

p.D118V

c.353A>T