Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.D617fs
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POT1

NM_015450.3:p.D617fs

Associated Papers

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

DiNardo CD et al.

Cancer, 2026

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

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Lim TL et al.

Leukemia, 2022

Loss-of-function variants in POT1 predispose to uveal melanoma.

Nathan V et al.

Journal of Medical Genetics, 2021

POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Shen E et al.

Journal of Medical Genetics, 2020

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

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

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

Germline mutations in shelterin complex genes are associated with familial glioma.

Bainbridge MN et al.

Journal of the National Cancer Institute, 2015

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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."