Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.T105M
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POT1

NM_015450.3:p.T105M

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

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Lim TL et al.

Leukemia, 2022

34193977 (PubMed )
Supplement: NIHMS1716876-supplement-Supplemental_Table_S3.pdf

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

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

Shen E et al.

Journal of Medical Genetics, 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

Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.

Gu P et al.

Oncogene, 2017

27869160 (PubMed )
Supplement: NIHMS818312-supplement-1.pdf
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