rs72842207
This is a intron variant variant in the BAG3 gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
diastolic blood pressure
cardiomyopathy
dilated cardiomyopathy
body height
level of heat shock protein beta-6 in blood serum
aspartate aminotransferase to alanine aminotransferase ratio
creatine kinase measurement
high density lipoprotein cholesterol measurement
cardiovascular measurement
systolic blood pressure
About BAG3
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 differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
View all BAG3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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