Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.L2610P
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KMT2D

NM_003482.4:p.L2610P

Associated Papers

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Supplemental_Figure_3_OC_data

Case report: Rare case of donor cell-derived T-cell acute lymphoblastic leukaemia in a female patient after receiving an allo-transplant from her male sibling.

Eadie LN et al.

British Journal of Haematology, 2023

Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.

Müller H et al.

Cancer Gene Therapy, 2022

35145272 (PubMed )
Supplement: 41417_2022_428_MOESM1_ESM.xlsx › 5k_data_set

Mutations in Epigenetic Regulation Genes in Gastric Cancer.

Nemtsova MV et al.

Cancers, 2021

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

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

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Juhlin CC et al.

Genes, Chromosomes & Cancer, 2015

Analysis of the coding genome of diffuse large B-cell lymphoma.

Pasqualucci L et al.

Nature Genetics, 2011

21804550 (PubMed )
Supplement: NIHMS308546-supplement-1.pdf
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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."