Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.D598N
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POT1

NM_015450.3:p.D598N

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

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

A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.

Srivastava A et al.

Cancers, 2020

32492864 (PubMed )
Supplement: cancers-12-01441-s001.zip › cancers-809741_Supplementary_Tables.xlsx › Table_S2

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

Potrony M et al.

The British Journal of Dermatology, 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."