Varaico: Literature-Extracted Genetic Variants

Gene:RPA1
Variant:p.D228Y
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RPA1

NM_002945.5:p.D228Y

Associated Papers

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.

Sharma R et al.

Blood, 2022

The helicase domain of Polθ counteracts RPA to promote alt-NHEJ.

Mateos-Gomez PA et al.

Nature Structural & Molecular Biology, 2017

RPA prevents G-rich structure formation at lagging-strand telomeres to allow maintenance of chromosome ends.

Audry J et al.

The Embo Journal, 2015

A novel allele of fission yeast rad11 that causes defects in DNA repair and telomere length regulation.

Ono Y et al.

Nucleic Acids Research, 2003

Characterization of the hyperrecombination phenotype of the pol3-t mutation of Saccharomyces cerevisiae.

Galli A et al.

Genetics, 2003

[Roles of ATM in DNA damage checkpoint and telomere maintenance].

Kanoh J et al.

Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2001

Rsp5, a ubiquitin-protein ligase, is involved in degradation of the single-stranded-DNA binding protein rfa1 in Saccharomyces cerevisiae.

Erdeniz N et al.

Molecular and Cellular Biology, 2000

Characterization of genetic interactions with RFA1: the role of RPA in DNA replication and telomere maintenance.

Smith J et al.

Biochimie, 2000

An allele of RFA1 suppresses RAD52-dependent double-strand break repair in Saccharomyces cerevisiae.

Smith J et al.

Genetics, 1999

Replication protein A (RPA): the eukaryotic SSB.

Iftode C et al.

Critical Reviews in Biochemistry and Molecular Biology, 1999

A novel allele of Saccharomyces cerevisiae RFA1 that is deficient in recombination and repair and suppressible by RAD52.

Firmenich AA et al.

Molecular and Cellular Biology, 1995

A mutation in the gene encoding the Saccharomyces cerevisiae single-stranded DNA-binding protein Rfa1 stimulates a RAD52-independent pathway for direct-repeat recombination.

Smith J et al.

Molecular and Cellular Biology, 1995

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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."