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

6 papers

NM_002074.5

p.A92D

c.275C>A

Surrounding Variants

6 papers

NM_002074.5

p.A92T

c.274G>A

5 papers

NM_002074.5

p.H91_A92delFs

c.272_275del4

1 paper

NM_002074.5

p.H91H

c.273C>T

1 paper

NM_002074.5

p.H91fs

c.271_272fs

4 papers

NM_002074.5

p.H91R

c.272A>G

3 papers

NM_002074.5

p.H91fs

c.271_272fs

6 papers

NM_002074.5

p.P94S

c.280C>T

1 paper

NM_002074.5

p.I93delFs

c.278_279delGA

1 paper

NM_002074.5

p.P94L

c.281C>T

3 papers

NM_002074.5

p.P94R

c.281C>G

6 papers

NM_002074.5

p.K89_V90Splc

c.268-1G>T

2 papers

NM_002074.5

p.I93_P94del2

c.277_281del6