Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.C241Y
Back to variants list

PMM2

NM_000303.3:p.C241Y

Associated Papers

Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.

Islam NN et al.

Communications Biology, 2025

Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.

Yu F et al.

Oxidative Medicine and Cellular Longevity, 2023

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."