Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.G272V
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POT1

NM_015450.3:p.G272V

Associated Papers

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.

Kim WT et al.

The Embo Journal, 2021

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

Amir M et al.

Cells, 2020

The role of telomere binding molecules for normal and abnormal hematopoiesis.

Hosokawa K et al.

International Journal of Hematology, 2018

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7

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

Gu P et al.

Oncogene, 2017

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

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

Speedy HE et al.

Blood, 2016

The shelterin complex and hematopoiesis.

Jones M et al.

The Journal of Clinical Investigation, 2016

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.

Ramsay AJ et al.

Nature Genetics, 2013

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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."