Varaico: Literature-Extracted Genetic Variants

Gene:MSH5
Variant:p.R351G
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MSH5

NM_172166.4:p.R351G

Associated Papers

Multifactorial analysis of male infertility: sperm DNA damage, semen parameters, and genetic testing in Iranian infertile men.

Motamed M et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.

Bale G et al.

Journal of Gastroenterology and Hepatology, 2024

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 2023

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

Luo W et al.

Journal of Ovarian Research, 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.

Macaisne N et al.

Journal of Assisted Reproduction and Genetics, 2022

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.

Clark N et al.

Current Genomics, 2013

MutS homologue hMSH5: recombinational DSB repair and non-synonymous polymorphic variants.

Wu X et al.

Plos One, 2013

MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.

Her C et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2007

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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."