Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.Q358fs
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POT1

NM_015450.3:p.Q358fs

Associated Papers

Clinical, genetic, and familial features of POT1 tumor predisposition syndrome.

DiNardo CD et al.

Cancer, 2026

Germline POT1 Variants in a Pan-Cancer Cohort.

Brock PL et al.

Jco Precision Oncology, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.

Burren OS et al.

Nature Genetics, 2024

39192095 (PubMed )
Supplement: 41588_2024_1884_MOESM4_ESM.xlsx › ST7_ExWAS

A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.

Nathan V et al.

British Journal of Haematology, 2021

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1
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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."