Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5007W
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KMT2D

NM_003482.4:p.R5007W

Associated Papers

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 › Fig3B_EC_data

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

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations.

Sweis RF et al.

Jco Precision Oncology, 2018

Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Zhou Y et al.

Neoplasia (new York, N.y.), 2018

30227305 (PubMed )
Supplement: mmc1.xlsx › Supplementary_6

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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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."