rs78332318

This is a intron variant variant in the FBXO32 gene.

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

heart rate

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 5.0e-18
N 425,720
Major Consortium StudyLarge GWAS
European

atrial fibrillation

Allele T
OR 0.11
p 3.0e-53
N 1,840,341
Large GWAS
European
Allele T
OR 1.13
p 1.0e-36
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.18
p 9.0e-17
N 589,441
Large GWAS
multi-ancestry
Roselli C et al. Multi-ethnic genome-wide association study for atrial fibrillation. Nature Genetics 50(9):1225-1233 (2018)
Allele T
OR 1.14
p 9.0e-17
N 588,190
Large GWAS
multi-ancestry
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.11
p 5.0e-22
N 437,772
Major Consortium StudyLarge GWAS
European

About FBXO32

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

View all FBXO32 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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