Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.V76M
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CALHM3

NM_001129742.2:p.V76M

Associated Papers

Interaction networks within disease-associated GαS variants characterized by an integrative biophysical approach.

Anazia K et al.

The Journal of Biological Chemistry, 2024

38925329 (PubMed )
Supplement: mmc1.docx

Visualizing the impact of disease-associated mutations on G protein-nucleotide interactions.

Anazia K et al.

Biorxiv : the Preprint Server for Biology, 2024

38352316 (PubMed )
Supplement: NIHPP2024.01.30.578006v1-supplement-1.pdf

Genetic Association With Pseudomonas aeruginosa Acquisition in Cystic Fibrosis: Influence of Surfactant Protein D and Mannose-Binding Lectin.

Nourkami-Tutdibi N et al.

Frontiers in Immunology, 2021

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D et al.

American Journal of Human Genetics, 2002

A highly effective dominant negative alpha s construct containing mutations that affect distinct functions inhibits multiple Gs-coupled receptor signaling pathways.

Berlot CH

The Journal of Biological Chemistry, 2002

A Gsalpha mutant designed to inhibit receptor signaling through Gs.

Iiri T et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

The G226A mutant of Gs alpha highlights the requirement for dissociation of G protein subunits.

Lee E et al.

The Journal of Biological Chemistry, 1992

Mutational analysis of the structure and function of GTP-binding proteins.

Masters SB et al.

Advances in Enzyme Regulation, 1990

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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."