Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.M1I
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CALHM3

NM_001129742.2:p.M1I

Associated Papers

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Nucleotide variation of sFRP5 gene is not associated with obesity in children and adolescents.

Van Camp JK et al.

Molecular Biology Reports, 2016

Conserved glycine residues in the fusion peptide of the paramyxovirus fusion protein regulate activation of the native state.

Russell CJ et al.

Journal of Virology, 2004

O-helix mutant T664P of Thermus aquaticus DNA polymerase I: altered catalytic properties for incorporation of incorrect nucleotides but not correct nucleotides.

Tosaka A et al.

The Journal of Biological Chemistry, 2001

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Das AK et al.

Human Molecular Genetics, 2001

A novel nucleolar G-protein conserved in eukaryotes.

Park JH et al.

Journal of Cell Science, 2001

Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.

Albertazzi E et al.

Journal of the American Society of Nephrology : Jasn, 2000

Mutant alleles of the MRS2 gene of yeast nuclear DNA suppress mutations in the catalytic core of a mitochondrial group II intron.

Schmidt U et al.

Journal of Molecular Biology, 1998

A glycine to alanine substitution in the paramyxovirus SV5 fusion peptide increases the initial rate of fusion.

Bagai S et al.

Virology, 1997

Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.

Bikker H et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Studies on the fusion peptide of a paramyxovirus fusion glycoprotein: roles of conserved residues in cell fusion.

Horvath CM et al.

Journal of Virology, 1992

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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."