Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5405H
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KMT2D

NM_003482.4:p.R5405H

Associated Papers

DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.

Manea S et al.

Cancers, 2025

40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S4._Mutations_in_PBL__22_cases_.xlsx › Hoja1

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Kommoss FKF et al.

Nature Communications, 2023

36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM8_ESM.xlsx › Tabelle1

Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.

Jorge SD et al.

Frontiers in Genetics, 2023

Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Sumazin P et al.

Journal of Hepatology, 2022

35577029 (PubMed )
Supplement: mmc5.xlsx › Mutations

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

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

Histone modifier gene mutations in peripheral T-cell lymphoma not otherwise specified.

Ji MM et al.

Haematologica, 2018

29305415 (PubMed )
Supplement: 2017.182444.Ji_SUPPL.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."