Varaico: Literature-Extracted Genetic Variants

Gene:TRAP1
Variant:p.R469C
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TRAP1

NM_016292.3:p.R469C

Associated Papers

Point mutations of the mitochondrial chaperone TRAP1 affect its functions and pro-neoplastic activity.

Laquatra C et al.

Cell Death & Disease, 2025

40074754 (PubMed )
Supplement: 41419_2025_7467_MOESM7_ESM.xlsx › TRAP1-simple_mode

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Bar O et al.

Frontiers in Neurology, 2023

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.

Fitzgerald JC et al.

Brain : a Journal of Neurology, 2017

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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."