Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.R273Q
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POT1

NM_015450.3:p.R273Q

Associated Papers

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

DiNardo CD et al.

Cancer, 2026

Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population.

Alzahrani AS et al.

Thyroid : Official Journal of the American Thyroid Association, 2025

POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.

Baptista Freitas M et al.

European Journal of Human Genetics : Ejhg, 2024

Germline POT1 mutation and neuroblastoma: A mere coincidence or true association.

Legrand C et al.

Pediatric Blood & Cancer, 2024

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

Familial Clonal Hematopoiesis in a Long Telomere Syndrome.

DeBoy EA et al.

The New England Journal of Medicine, 2023

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

POT1 mutations are frequent and associated with Ki-67 index in canine diffuse large B-cell lymphoma.

Fanelli A et al.

Frontiers in Veterinary Science, 2022

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Sakihama S et al.

Cancer Science, 2021

33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4

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

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Equine-all_other

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

Gu P et al.

Oncogene, 2017

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

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.

Herling CD et al.

Blood, 2016

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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."