Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.R33K
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NTHL1

NM_002528.7:p.R33K

Associated Papers

Low Yield of Genetic Testing in Serrated Polyposis Syndrome.

Upadhye I et al.

Clinical and Translational Gastroenterology, 2025

POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Magrin L et al.

Oncogene, 2021

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

Li N et al.

Npj Breast Cancer, 2021

33980861 (PubMed )
Supplement: 41523_2021_255_MOESM1_ESM.pdf

NTHL1 in genomic integrity, aging and cancer.

Das L et al.

Dna Repair, 2020

Expression of a germline variant in the N-terminal domain of the human DNA glycosylase NTHL1 induces cellular transformation without impairing enzymatic function or substrate specificity.

Marsden CG et al.

Oncotarget, 2020

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

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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."