Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.Q116H

BAG3

535 papers

RefSeq Summary

BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but di...

Pfam Domains

WWaa 22–52UCSCWW domain
BAGaa 425–497UCSCBAG domain

Gene Aliases

HGNC Name

BAG cochaperone 3

HGNC Previous Name

BCL2 associated athanogene 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004281.4
p.Q116H
c.348G>T
Surrounding Variants
2 papers
NM_004281.4
p.Q116H
c.348G>C
1 paper
NM_004281.4
p.P117insFs
c.350dupC
1 paper
NM_004281.4
p.Q116*
c.346C>T
1 paper
NM_004281.4
p.G118_F122del0
c.352_366del15
1 paper
NM_004281.4
p.G118fs
c.352_353fs
7 papers
NM_004281.4
p.P115S
c.343C>T
2 papers
NM_004281.4
p.Y114C
c.341A>G
1 paper
NM_004281.4
p.M119V
c.355A>G
1 paper
NM_004281.4
p.Y114H
c.340T>C
1 paper
NM_004281.4
p.Y114fs
c.340_341fs
1 paper
NM_004281.4
p.Y114fs
c.340_341fs
1 paper
NM_004281.4
p.V113V
c.339C>T
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