Varaico: Literature-Extracted Genetic Variants

Gene:MATN1
Variant:p.R420M
Back to variants list

MATN1

NM_002379.3:p.R420M

Associated Papers

Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments.

Effertz K et al.

The Journal of Biological Chemistry, 1999

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."