Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S5404F
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KMT2D

NM_003482.4:p.S5404F

Associated Papers

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Variant_Calls

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.

Peng Y et al.

Molecular Medicine (cambridge, Mass.), 2025

40247187 (PubMed )
Supplement: 10020_2025_1199_MOESM5_ESM.xlsx › Sheet1

SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.

Portelinha A et al.

The Journal of Experimental Medicine, 2024

39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset

Unraveling the genetics of transformed splenic marginal zone lymphoma.

Grau M et al.

Blood Advances, 2023

36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST7

Macroscopic somatic clonal expansion in morphologically normal human urothelium.

Li R et al.

Science (new York, N.y.), 2020

Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS.

Kim JE et al.

Translational Oncology, 2018

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

Ronchi CL et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis.

Zhang J et al.

Nature Medicine, 2015

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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."