Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.D253G

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
1 paper
NM_004281.4
p.D253G
c.758A>G
Surrounding Variants
1 paper
NM_004281.4
p.D253N
c.757G>A
1 paper
NM_004281.4
p.D254G
c.761A>G
2 papers
NM_004281.4
p.W255*
c.764G>A
1 paper
NM_004281.4
p.Q251fs
c.751_752fs
1 paper
NM_004281.4
p.Q251*
c.751C>T
2 papers
NM_004281.4
p.Q251delFs
c.752delA
2 papers
NM_004281.4
p.Q251fs
c.751_752fs
2 papers
NM_004281.4
p.W255*
c.765G>A
1 paper
NM_004281.4
p.E256*
c.766G>T
1 paper
NM_004281.4
p.Q251insFs
c.751dupC
1 paper
NM_004281.4
p.Q251delFs
c.751delC
3 papers
NM_004281.4
p.P257L
c.770C>T
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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."