Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R487Q
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MLH1

NM_000249.4:p.R487Q

Associated Papers

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

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM5_ESM.xlsx › Foglio1

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2022

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Marzouka NA et al.

Scientific Reports, 2020

33177554 (PubMed )
Supplement: 41598_2020_75854_MOESM1_ESM.xlsx › P5

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.

Brammer DW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

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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."