Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.Q94H
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POT1

NM_015450.3:p.Q94H

Associated Papers

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Wan H et al.

Cell Reports. Medicine, 2025

40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

Dissecting the oncogenic mechanisms of POT1 cancer mutations through deep scanning mutagenesis.

Martin A et al.

Biorxiv : the Preprint Server for Biology, 2024

Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Gan M et al.

Cancer Medicine, 2022

35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1

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

Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations.

Wu C et al.

Oncotarget, 2016

27224912 (PubMed )
Supplement: oncotarget-07-38180-s001.pdf
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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."