Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.K85K
Back to variants list

POT1

NM_015450.3:p.K85K

Associated Papers

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Fiasconaro CA et al.

Diseases (basel, Switzerland), 2025

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S6

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Pastorino L et al.

Cancers, 2020

The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants.

Gong Y et al.

Current Opinion in Genetics & Development, 2020

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

POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.

Toland AE

The British Journal of Dermatology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."