Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.Q94K
Back to variants list

POT1

NM_015450.3:p.Q94K

Associated Papers

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Pastorino L et al.

Cancers, 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

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

Speedy HE et al.

Blood, 2016

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co
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."