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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNB4

GNB4

63 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 1–340UCSCG protein beta WD-40 repeat protein

Gene Aliases

HGNC Name

G protein subunit beta 4

HGNC Previous Name

guanine nucleotide binding protein (G protein), beta polypeptide 4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 52 variants

11 papers

chr3:179416495 T>C

NM_021629.4

p.K89E

c.265A>G

WD40_Gbeta

exact variant not in gnomAD48 overlapping SVs

9 papers

chr3:179419444 C>T

NM_021629.4

p.G53D

c.158G>A

WD40_Gbeta

Exome: 0.0% (AC=1, hom=0)Genome: n/a48 overlapping SVs

7 papers

chr3:179419433 T>C

NM_021629.4

p.K57E

c.169A>G

WD40_Gbeta

Exome: 0.0% (AC=0, hom=0)Genome: n/a48 overlapping SVs

5 papers

chr3:179413452 T>C

NM_021629.4

p.Q220R

c.659A>G

WD40_Gbeta

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)48 overlapping SVs

4 papers

chr3:179416531 C>G

NM_021629.4

p.G77R

c.229G>C

WD40_Gbeta

exact variant not in gnomAD48 overlapping SVs

4 papers

chr3:179416531 C>T

NM_021629.4

p.G77R

c.229G>A

WD40_Gbeta

exact variant not in gnomAD48 overlapping SVs

2 papers

chr3:179419485 A>G

NM_021629.4

p.S39S

c.117T>C

WD40_Gbeta

Exome: 46.9% (AC=679732, hom=160903)Genome: 47.0% (AC=71404, hom=16872)48 overlapping SVs

2 papers

chr3:179419477 C>T

NM_021629.4

p.R42Q

c.125G>A

WD40_Gbeta

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=0, hom=0)48 overlapping SVs

2 papers

chr3:179419416 A>G

NM_021629.4

p.H62H

c.186T>C

WD40_Gbeta

Exome: 0.2% (AC=2706, hom=13)Genome: 0.2% (AC=232, hom=0)48 overlapping SVs

2 papers

chr3:179416494 T>G

NM_021629.4

p.K89T

c.266A>C

WD40_Gbeta

exact variant not in gnomAD48 overlapping SVs

2 papers

chr3:179413581 G>T

NM_021629.4

p.T177N

c.530C>A

WD40_Gbeta

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)48 overlapping SVs

2 papers

chr3:179401307 C>T

NM_021629.4

p.G310D

c.929G>A

WD40_Gbeta

exact variant not in gnomAD49 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."