Varaico: Literature-Extracted Genetic Variants

Gene:TRPV1
Variant:p.T612M
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TRPV1

NM_080704.4:p.T612M

Associated Papers

Association of TRPV1 genetic variants with cognitive functions in Parkinson disease.

Yao WS et al.

Iscience, 2026

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.

Sanjuan-Ruiz I et al.

Molecular Neurodegeneration Advances, 2025

41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

Vanden Abeele F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."