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.S98F

c.293C>T

Surrounding Variants

1 paper

NM_002074.5

p.S98S

c.294C>T

1 paper

NM_002074.5

p.W99R

c.295T>C

1 paper

NM_002074.5

p.W99R

c.295T>A

1 paper

NM_002074.5

p.S97S

c.291C>T

1 paper

NM_002074.5

p.W99L

c.296G>T

1 paper

NM_002074.5

p.V100I

c.298G>A

1 paper

NM_002074.5

p.R96R

c.288C>T

8 papers

NM_002074.5

p.R96L

c.287G>T

1 paper

NM_002074.5

p.R96H

c.287G>A

2 papers

NM_002074.5

p.R96C

c.286C>T

1 paper

NM_002074.5

p.V100fs

c.298_299fs

1 paper

NM_002074.5

p.V100V

c.300C>A