Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.C5092Y
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KMT2D

NM_003482.4:p.C5092Y

Associated Papers

Identification of genetic subtypes in follicular lymphoma.

Shelton V et al.

Blood Cancer Journal, 2024

39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_12.XLSX › Sheet1

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

Faundes V et al.

Journal of Human Genetics, 2019

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s10.xlsx › Validation

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

Zhang J et al.

Nature Medicine, 2015

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.

Dentici ML et al.

Archives of Disease in Childhood, 2015

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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."