Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.M595V
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POLH

NM_006502.3:p.M595V

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.

Ricciardiello R et al.

Scientific Reports, 2024

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.

Di Lucca J et al.

European Journal of Cancer (oxford, England : 1990), 2009

Mutations in DNA polymerase eta are not detected in squamous cell carcinoma of the skin.

Glick E et al.

International Journal of Cancer, 2006

DNA polymerases and human diseases.

Sweasy JB et al.

Radiation Research, 2006

Modulation of oxidative mutagenesis and carcinogenesis by polymorphic forms of human DNA repair enzymes.

Nohmi T et al.

Mutation Research, 2005

Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.

Feltes BC et al.

Mutation Research. Reviews in Mutation Research, 0

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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."