Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Y2199fs
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KMT2D

NM_003482.4:p.Y2199fs

Associated Papers

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

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

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.

Geng H et al.

Blood Advances, 2025

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

Monitoring of Circulating Tumor DNA Predicts Response to Treatment and Early Progression in Follicular Lymphoma: Results of a Prospective Pilot Study.

Fernández-Miranda I et al.

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

36269794 (PubMed )
Supplement: ccr-22-1654_supplementary_data_2_suppds2.xlsx › Table_S6__Mutational_data

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Huang L et al.

Molecular Genetics and Genomics : Mgg, 2022

Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.

Yi T et al.

Frontiers in Genetics, 2022

Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.

Merati G et al.

Frontiers in Oncology, 2021

34540694 (PubMed )
Supplement: DataSheet_1.pdf

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1

Analysis of circulating tumor DNA by targeted ultra-deep sequencing across various non-Hodgkin lymphoma subtypes.

Shin SH et al.

Leukemia & Lymphoma, 2019

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

29988082 (PubMed )
Supplement: NIHMS77608-supplement-Supplementary_Table_2.xlsx › 2.2_VC_ARCH-PD

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N et al.

European Journal of Human Genetics : Ejhg, 2017

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Martínez F et al.

Journal of Medical Genetics, 2017

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC et al.

American Journal of Medical Genetics. Part A, 2011

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Ng SB et al.

Nature Genetics, 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."