Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R497Q
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MLH1

NM_000249.4:p.R497Q

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data

Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.

Yang RK et al.

Cancers, 2022

36230473 (PubMed )
Supplement: cancers-14-04550-s001.zip › cancers-1836268-supplementary › SupplementaryDataYanget2022 › Table_S1._Case_Level_Data.xlsx › Sheet1

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.

Okkels H et al.

Genetic Testing and Molecular Biomarkers, 2019

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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."