Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.P60A
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CALHM3

NM_001129742.2:p.P60A

Associated Papers

Oxidative modification impairs SERCA activity in Drosophila and human cell models of Parkinson's disease.

Solana-Manrique C et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Hu L et al.

Molecular Medicine Reports, 2020

Expression profiling of a hypercontraction-induced myopathy in Drosophila suggests a compensatory cytoskeletal remodeling response.

Montana ES et al.

The Journal of Biological Chemistry, 2006

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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."