Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.H266L
Back to variants list

POT1

NM_015450.3:p.H266L

Associated Papers

Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.

Eklund EA et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40011914 (PubMed )
Supplement: 13046_2025_3342_MOESM6_ESM.xlsx › VUS_

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

Amir M et al.

Cells, 2020

POT1-TPP1 differentially regulates telomerase via POT1 His266 and as a function of single-stranded telomere DNA length.

Xu M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Investigation of deleterious effects of nsSNPs in the POT1 gene: a structural genomics-based approach to understand the mechanism of cancer development.

Amir M et al.

Journal of Cellular Biochemistry, 2019

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

Hosokawa K et al.

International Journal of Hematology, 2018

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."