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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BAG4

Variant:p.E65V

BAG4

45 papers

RefSeq Summary

The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth relat...

Pfam Domains

BAGaa 383–455UCSCBAG domain

Gene Aliases

HGNC Name

BAG cochaperone 4

HGNC Alias Symbol

SODD

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:38177063 A>T

NM_004874.4

p.E65V

c.194A>T

exact variant not in gnomAD18 overlapping SVs

Surrounding Variants

1 paper

chr8:38177119 C>T

NM_004874.4

p.R84*

c.250C>T

exact variant not in gnomAD18 overlapping SVs

1 paper

chr8:38177006 C>T

NM_004874.4

p.P46L

c.137C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr8:38176942 G>A

NM_004874.4

p.G25S

c.73G>A

Exome: 0.4% (AC=5203, hom=16)Genome: 0.3% (AC=449, hom=1)18 overlapping SVs

1 paper

chr8:38176913 C>A

NM_004874.4

p.P15Q

c.44C>A

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=3, hom=0)18 overlapping SVs

1 paper

chr8:38176875 G>A

NM_004874.4

p.S2S

c.6G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 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."