Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.V384D
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MLH1

NM_000249.4:p.V384D

Associated Papers

Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.

Kang B et al.

International Journal of Molecular Sciences, 2026

41683736 (PubMed )
Supplement: ijms-27-01305-s001.zip › ijms-4056495-supplementary.pdf

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Mejia Maza A et al.

American Journal of Human Genetics, 2026

41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12

Head and neck squamous cell carcinoma following allogeneic bone marrow transplantation: Clinical features, genomic Alterations, and limited efficacy of palliative chemotherapy.

Park SE et al.

Oral Oncology, 2025

Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.

Da Cruz Paula A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors.

Cui Q et al.

Journal of Cancer Research and Clinical Oncology, 2025

40369172 (PubMed )
Supplement: 432_2025_6209_MOESM5_ESM.xlsx › Sheet1

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report.

Li Y et al.

Frontiers in Oncology, 2025

41064077 (PubMed )
Supplement: Table2.xlsx › SNVIndel

Genomic and transcriptomic profiles associated with response to eribulin and nivolumab combination in HER-2-negative metastatic breast cancer.

Park C et al.

Cancer Immunology, Immunotherapy : Cii, 2024

39105849 (PubMed )
Supplement: 262_2024_3782_MOESM1_ESM.pdf

A comprehensive overview of the molecular features and therapeutic targets in BRAFV600E-mutant colorectal cancer.

Gu R et al.

Clinical and Translational Medicine, 2024

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.

Deyell RJ et al.

Nature Communications, 2024

38755180 (PubMed )
Supplement: 41467_2024_48363_MOESM7_ESM.xlsx › Figure_2A__right_

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

Epidermal growth factor receptor compound and concomitant mutations: advances in precision treatment strategies.

Li W et al.

Chinese Medical Journal, 2023

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G et al.

Oncotarget, 2023

37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.

Wolf K et al.

Nucleic Acids Research, 2023

EGFR-TKI Combined with Pemetrexed versus EGFR-TKI Monotherapy in Advanced EGFR-mutated NSCLC: A Prospective, Randomized, Exploratory Study.

Gu W et al.

Cancer Research and Treatment, 2023

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Zakaria NH et al.

Human Genomics, 2023

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.

Canson DM et al.

Bioinformatics (oxford, England), 2023

37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants

Genetic Characterization of Ovarian Tumor Tissues from Patients with Epithelial Ovarian Cancer in a Philippine Tertiary Hospital: A Descriptive Study.

Lintao RCV et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

GISTs with NTRK Gene Fusions: A Clinicopathological, Immunophenotypic, and Molecular Study.

Cao Z et al.

Cancers, 2022

36612101 (PubMed )
Supplement: cancers-15-00105-s001.zip › cancers-2037302-supplementary.pdf

Establishment and characteristics of GWH04, a new primary human glioblastoma cell line.

Cheng F et al.

International Journal of Oncology, 2022

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

Wang WC et al.

Human Genomics, 2022

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms.

Bosch DE et al.

Jco Precision Oncology, 2022

MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.

Zhang XW et al.

World Journal of Clinical Cases, 2022

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MLH1

Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Dos Santos W et al.

Bmc Medical Genomics, 2022

35761395 (PubMed )
Supplement: 12920_2022_1294_MOESM5_ESM.xlsx › Table_S2

Phase-Separated Subcellular Compartmentation and Related Human Diseases.

Zhang L et al.

International Journal of Molecular Sciences, 2022

Clinical implications of germline variations for treatment outcome and drug resistance for small molecule kinase inhibitors in patients with non-small cell lung cancer.

Heersche N et al.

Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 2022

Identification of a Cowden syndrome patient with a novel PTEN mutation and establishment of patient-derived induced pluripotent stem cells.

Obayashi F et al.

In Vitro Cellular & Developmental Biology. Animal, 2022

A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.

Bao G et al.

Frontiers in Oncology, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Detection of actionable mutations in archived cytological bile specimens.

Ohyama H et al.

Journal of Hepato-biliary-pancreatic Sciences, 2021

Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.

Galbraith LN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.

Singh P et al.

Nature Communications, 2021

34408140 (PubMed )
Supplement: 41467_2021_25028_MOESM3_ESM.xlsx › 2020-01-17_MLH1_Supplementary_T

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

Li N et al.

Npj Breast Cancer, 2021

34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4b_Recurrent_MS
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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."