Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.R273G
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POT1

NM_015450.3:p.R273G

Associated Papers

Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.

Khouja M et al.

Leukemia, 2026

41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5

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

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.

Speedy HE 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."