Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2210L
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KMT2D

NM_003482.4:p.P2210L

Associated Papers

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.

Halper-Stromberg E et al.

Experimental Hematology & Oncology, 2024

39090734 (PubMed )
Supplement: 40164_2024_541_MOESM1_ESM.pdf

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

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__

Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

Schraml P et al.

The Journal of Pathology. Clinical Research, 2023

36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_10

Extraordinary clinical response to ibrutinib in low-grade ovarian cancer guided by organoid drug testing.

Gray HJ et al.

Npj Precision Oncology, 2023

Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

Pipek O et al.

International Journal of Molecular Sciences, 2023

37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf

Human Metastatic Cholangiocarcinoma Patient-Derived Xenografts and Tumoroids for Preclinical Drug Evaluation.

Serra-Camprubí Q et al.

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

36374558 (PubMed )
Supplement: ccr-22-2551_supplementary_table_s3_suppts3.xlsx › CCA119

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val5

Metastatic pediatric sclerosing epithelioid fibrosarcoma.

Woods AD et al.

Cold Spring Harbor Molecular Case Studies, 2021

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Scheipl S et al.

Therapeutic Advances in Medical Oncology, 2021

34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer

Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor.

Yan Y et al.

Jco Precision Oncology, 2020

Molecular characterization of medulloblastomas with extensive nodularity (MBEN).

Korshunov A et al.

Acta Neuropathologica, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.

Paděrová J et al.

Clinical Genetics, 2016

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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."