Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.Q94R
Back to variants list

POT1

NM_015450.3:p.Q94R

Associated Papers

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

Martin A et al.

Biorxiv : the Preprint Server for Biology, 2024

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

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

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

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

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

A Rare CD4-CD8+ Adult T-Cell Leukemia/Lymphoma with Unique Molecular Mutations: A Case Report with Literature Review.

Choudhuri J et al.

Case Reports in Hematology, 2020

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

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

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM4_ESM.xlsx › Supplementary_Data_2

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

Gu P et al.

Oncogene, 2017

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

Speedy HE et al.

Blood, 2016

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

Herling CD et al.

Blood, 2016

The shelterin complex and hematopoiesis.

Jones M et al.

The Journal of Clinical Investigation, 2016

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_10.xlsx › deep_seq_evolving_clone_TP1

POT1 loss-of-function variants predispose to familial melanoma.

Robles-Espinoza CD et al.

Nature Genetics, 2014

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."