Varaico: Literature-Extracted Genetic Variants

Gene:BAG3
Variant:p.D300N

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
6 papers
NM_004281.4
p.D300N
c.898G>A
Surrounding Variants
1 paper
NM_004281.4
p.V299V
c.897C>T
1 paper
NM_004281.4
p.D300E
c.900C>A
1 paper
NM_004281.4
p.R301delFs
c.901_902delAG
1 paper
NM_004281.4
p.V299D
c.896T>A
1 paper
NM_004281.4
p.R301fs
c.901_902fs
3 papers
NM_004281.4
p.R301delFs
c.903delG
5 papers
NM_004281.4
p.R301fs
c.901_902fs
4 papers
NM_004281.4
p.V298M
c.892G>A
1 paper
NM_004281.4
p.T297T
c.891C>T
1 paper
NM_004281.4
p.P302L
c.905C>T
1 paper
NM_004281.4
p.T297I
c.890C>T
1 paper
NM_004281.4
p.T297fs
c.889_890fs
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