Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.V246A

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.V246A
c.737T>C
Surrounding Variants
4 papers
NM_004281.4
p.H248R
c.743A>G
5 papers
NM_004281.4
p.Q244*
c.730C>T
1 paper
NM_004281.4
p.H243fs
c.727_728fs
2 papers
NM_004281.4
p.H243fs
c.727_728fs
1 paper
NM_004281.4
p.Q251insFs
c.751dupC
1 paper
NM_004281.4
p.Q251delFs
c.751delC
3 papers
NM_004281.4
p.H243delFs
c.727delC
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
1 paper
NM_004281.4
p.Q241R
c.722A>G
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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."