Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.D506G
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HELB

NM_001370285.1:p.D506G

Associated Papers

Rare SNP in the HELB gene interferes with RPA interaction and cellular function of HELB.

Osei B et al.

Nar Molecular Medicine, 2025

The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.

Witham M et al.

Nar Molecular Medicine, 2024

Rare SNP in the HELB gene interferes with RPA interaction and cellular function of HELB.

Osei B et al.

Biorxiv : the Preprint Server for Biology, 2024

Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

Ward LD et al.

Hgg Advances, 2022

35493704 (PubMed )
Supplement: mmc1.pdf

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Day FR et al.

Nature Genetics, 2015

SDS, a structural disruption score for assessment of missense variant deleteriousness.

Preeprem T et al.

Frontiers in Genetics, 2014

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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."