Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.N660del1
Back to variants list

COL10A1

NM_000493.4:p.N660del1

Associated Papers

The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.

Yang J et al.

Human Molecular Genetics, 2025

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."