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

1 paper

NM_002074.5

p.I81I

c.243C>A

Surrounding Variants

6 papers

NM_002074.5

p.I80S

c.239T>G

64 papers

NM_002074.5

p.I80T

c.239T>C

38 papers

NM_002074.5

p.I80N

c.239T>A

1 paper

NM_002074.5

p.D83V

c.248A>T

21 papers

NM_002074.5

p.K78R

c.233A>G

3 papers

NM_002074.5

p.K78E

c.232A>G

1 paper

NM_002074.5

p.K78Q

c.232A>C

1 paper

NM_002074.5

p.Y85Y

c.255C>T

11 papers

NM_002074.5

p.G77V

c.230G>T

8 papers

NM_002074.5

p.G77A

c.230G>C

3 papers

NM_002074.5

p.G77D

c.230G>A

1 paper

NM_002074.5

p.T86P

c.256A>C