rs41274050
This variant is located in the A1CF gene.
▶GWAS Catalog Trait Associations (23)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (23)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
apolipoprotein B measurement
total cholesterol measurement
level of lysosome-associated membrane glycoprotein 2 in blood
level of carcinoembryonic antigen-related cell adhesion molecule 16 in blood
low density lipoprotein cholesterol measurement
non-high density lipoprotein cholesterol measurement
serum gamma-glutamyl transferase measurement
omega-3 polyunsaturated fatty acid measurement
gamma-glutamyl hydrolase measurement
▶ClinVar annotation
About A1CF
Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
View all A1CF variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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