rs4788

This is a synonymous variant in the NACA gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

QRS-T angle

Young WJ et al. “Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.” Nature Communications 14(1):1411 (2023)
Allele A
OR 0.04
p 1.0e-11
N 96,562
Large GWAS
European

About NACA

This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]

View all NACA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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