Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.Y816*
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KMT2C

NM_170606.3:p.Y816*

Associated Papers

Evolution of AR and non-AR alterations in circulating tumor DNA of metastatic prostate cancer patients treated in the phase 3 Alliance A031201 trial.

Valentín López JC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

Molecular Biomarkers of Glioma.

Rajakaruna P et al.

Biomedicines, 2025

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Establishment and genomic profiling of cholangiocarcinoma cells with functional characterization.

Jaidee R et al.

Scientific Reports, 2025

40074934 (PubMed )
Supplement: 41598_2025_93192_MOESM2_ESM.pdf

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Wallis M et al.

Orphanet Journal of Rare Diseases, 2024

Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors.

Abdulfatah E et al.

Human Pathology, 2024

HLA-based banking of induced pluripotent stem cells in Saudi Arabia.

Alowaysi M et al.

Stem Cell Research & Therapy, 2023

Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Liu R et al.

Cancer Science, 2023

36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_

Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.

Oishi N et al.

Blood Advances, 2023

35882439 (PubMed )
Supplement: BLOODA_ADV-2022-007541-mmc2.xlsx › Sheet1

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: Table1.XLS › Sheet

Integrated Analysis of Ovarian Juvenile Granulosa Cell Tumors Reveals Distinct Epigenetic Signatures and Recurrent TERT Rearrangements.

Vougiouklakis T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Exome sequencing of glioblastoma-derived cancer stem cells reveals rare clinically relevant frameshift deletion in MLLT1 gene.

Marei HE et al.

Cancer Cell International, 2022

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2d

NGS-Based Analysis of Atypical Deep Penetrating Nevi.

Manca A et al.

Cancers, 2021

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Inagaki-Kawata Y et al.

Communications Biology, 2020

33067557 (PubMed )
Supplement: 42003_2020_1301_MOESM1_ESM.pdf

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Integrated genomic analysis suggests MLL3 is a novel candidate susceptibility gene for familial nasopharyngeal carcinoma.

Sasaki MM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2015

Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

Nichols AC et al.

Archives of Otolaryngology--head & Neck Surgery, 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."