Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.A53V
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KMT2A

NM_001197104.2:p.A53V

Associated Papers

Isocitrate dehydrogenase 1 gene mutations: a case review unveiling its biological impact on disease progression, prognosis and treatment in Chilean patients.

de Mayo Glasser T et al.

Bjr Case Reports, 2025

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 › CCA123

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer.

Zhao ZM et al.

Bmc Cancer, 2019

30665374 (PubMed )
Supplement: 12885_2019_5290_MOESM1_ESM.xlsx › CCNE1ms_forSupplData_FMOne_Pilo

Effective osimertinib treatment in a patient with discordant T790 M mutation detection between liquid biopsy and tissue biopsy.

Mambetsariev I et al.

Bmc Cancer, 2018

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

Computational identification and structural analysis of deleterious functional SNPs in MLL gene causing acute leukemia.

George Priya Doss C et al.

Interdisciplinary Sciences, Computational Life Sciences, 2010

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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."