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.T102T

c.306C>G

Surrounding Variants

1 paper

NM_002074.5

p.C103F

c.308G>T

1 paper

NM_002074.5

p.M101I

c.303G>T

1 paper

NM_002074.5

p.M101I

c.303G>C

1 paper

NM_002074.5

p.M101I

c.303G>A

1 paper

NM_002074.5

p.A104P

c.310G>C

8 papers

NM_002074.5

p.M101V

c.301A>G

1 paper

NM_002074.5

p.V100fs

c.298_299fs

1 paper

NM_002074.5

p.V100V

c.300C>A

1 paper

NM_002074.5

p.V100I

c.298G>A

1 paper

NM_002074.5

p.W99L

c.296G>T

7 papers

NM_002074.5

p.A106T

c.316G>A

1 paper

NM_002074.5

p.W99R

c.295T>C