Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.N5437S
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KMT2D

NM_003482.4:p.N5437S

Associated Papers

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

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

Faundes V et al.

Journal of Human Genetics, 2019

A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription.

Wang SP et al.

Molecular Cell, 2017

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

Zhang J et al.

Nature Medicine, 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."