Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.V112I
Back to variants list

CALHM3

NM_001129742.2:p.V112I

Associated Papers

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.

Gilley J et al.

Elife, 2021

Octameric structure of the human bifunctional enzyme PAICS in purine biosynthesis.

Li SX et al.

Journal of Molecular Biology, 2007

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM et al.

Human Mutation, 2005

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."