Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A2

Variant:p.L360P

Back to variants list

COL11A2

NM_080680.3:p.L360P

hg38:chr6:33184185 A>G

Associated Papers

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.

Koch RL et al.

Npj Genomic Medicine, 2025

41213961 (PubMed )

Supplement: 41525_2025_527_MOESM1_ESM.pdf

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."