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.G131E

c.392G>A

Surrounding Variants

1 paper

NM_002074.5

p.E130K

c.388G>A

1 paper

NM_002074.5

p.N132N

c.396C>T

1 paper

NM_002074.5

p.R129H

c.386G>A

1 paper

NM_002074.5

p.V133V

c.399G>A

1 paper

NM_002074.5

p.R134H

c.401G>A

1 paper

NM_002074.5

p.R134R

c.402C>T

1 paper

NM_002074.5

p.R137C

c.409C>T

1 paper

NM_002074.5

p.R137P

c.410G>C

1 paper

NM_002074.5

p.N125S

c.374A>G

1 paper

NM_002074.5

p.S122S

c.366C>T

1 paper

NM_002074.5

p.S122P

c.364T>C

1 paper

NM_002074.5

p.H142H

c.426C>T