Article

Rare SNP in the <i>HELB</i> gene interferes with RPA interaction and cellular function of HELB

2024-03-02

Abstract excerpt

<h4>ABSTRACT</h4> HELB is a human helicase involved in initiation of DNA replication, the replication stress response, and regulation of double-strand DNA break repair. rs75770066 is a rare SNP in the HELB gene that affects age at natural menopause. rs75770066 results in a D506G substitution in an acidic patch within the 1A domain of the helicase that is known to interact with RPA. We found that this amino acid c...

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Literature Corpus work: c8ec4d09-7a70-5e82-bfae-318804b76432
DOI: 10.1101/2024.02.27.582415

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