Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5153Q
Back to variants list

KMT2D

NM_003482.4:p.R5153Q

Associated Papers

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Frauenfeld L et al.

Blood Advances, 2022

34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Somatic_SNV_Primary_TCGA

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

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

Baker SW et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Novel splicing-factor mutations in juvenile myelomonocytic leukemia.

Takita J et al.

Leukemia, 2012

Sequencing histone-modifying enzymes identifies UTX mutations in acute lymphoblastic leukemia.

Mar BG et al.

Leukemia, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."