Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.S229L
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POLB

NM_002690.3:p.S229L

Associated Papers

The S180R Human Germline Variant of DNA Polymerase β Is a Low Fidelity Enzyme with Reduced Flexibility of the Fingers Domain.

Sawyer DL et al.

Biochemistry, 2026

Unfilled gaps by polβ lead to aberrant ligation by LIG1 at the downstream steps of base excision repair pathway.

Gulkis M et al.

Nucleic Acids Research, 2024

Melanoma-derived DNA polymerase theta variants exhibit altered DNA polymerase activity.

Thomas C et al.

Biorxiv : the Preprint Server for Biology, 2023

DNA Polymerase β in the Context of Cancer.

Sawyer DL et al.

Critical Reviews in Oncogenesis, 2022

Revealing an Internal Stabilization Deficiency in the DNA Polymerase β K289M Cancer Variant through the Combined Use of Chemical Biology and X-ray Crystallography.

Batra VK et al.

Biochemistry, 2020

Chromatin and other obstacles to base excision repair: potential roles in carcinogenesis.

Caffrey PJ et al.

Mutagenesis, 2020

Remote Mutations Induce Functional Changes in Active Site Residues of Human DNA Polymerase β.

Eckenroth BE et al.

Biochemistry, 2017

A germline polymorphism of thymine DNA glycosylase induces genomic instability and cellular transformation.

Sjolund A et al.

Plos Genetics, 2014

Human PrimPol mutation associated with high myopia has a DNA replication defect.

Keen BA et al.

Nucleic Acids Research, 2014

The S229L colon tumor-associated variant of DNA polymerase β induces cellular transformation as a result of decreased polymerization efficiency.

Nemec AA et al.

The Journal of Biological Chemistry, 2014

Human POLB gene is mutated in high percentage of colorectal tumors.

Donigan KA et al.

The Journal of Biological Chemistry, 2012

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