Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.Y508C

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.Y508C
c.1523A>G
Surrounding Variants
1 paper
NM_004281.4
p.E509E
c.1527A>G
1 paper
NM_004281.4
p.V507fs
c.1519_1520fs
1 paper
NM_004281.4
p.V507fs
c.1519_1520fs
1 paper
NM_004281.4
p.L510V
c.1528C>G
1 paper
NM_004281.4
p.L510F
c.1528C>T
2 papers
NM_004281.4
p.V507delFs
c.1519delG
1 paper
NM_004281.4
p.Q506*
c.1516C>T
1 paper
NM_004281.4
p.Q511K
c.1531C>A
1 paper
NM_004281.4
p.Q511*
c.1531C>T
2 papers
NM_004281.4
p.V505insFs
c.1513_1514ins4
1 paper
NM_004281.4
p.V505fs
c.1513_1514fs
3 papers
NM_004281.4
p.P512S
c.1534C>T
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