Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRDM16

Variant:p.P499fs

Back to variants list

PRDM16

NM_022114.4:p.P499fs

hg38:chr1:3411692 CCC>N

Associated Papers

A novel truncating variant in PRDM16 causes severe familial cardiomyopathy with variable clinical presentations.

Che Y et al.

Genes & Diseases, 2026

41584850 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."