Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.P601L
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POT1

NM_015450.3:p.P601L

Associated Papers

In silico and in vitro mutational analysis to investigate the structure and pathogenicity of POT1 missense variants.

Nguyen T et al.

Nar Molecular Medicine, 2025

Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.

Simonin-Wilmer I et al.

Journal of Medical Genetics, 2023

36539277 (PubMed )
Supplement: jmg-2022-108776supp006.xlsx › Supplementary_Table_2_newID

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Lim TL et al.

Leukemia, 2022

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