Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G2493G
Back to variants list

KMT2D

NM_003482.4:p.G2493G

Associated Papers

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM3_ESM.xlsx › Common.Cosmic_Mut

Characterization of a new mutation of mitochondrial ND6 gene in hepatocellular carcinoma and its effects on respiratory complex I.

Bazzani V et al.

Scientific Reports, 2025

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Klemke L et al.

Frontiers in Oncology, 2021

34178628 (PubMed )
Supplement: DataSheet_1.pdf

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Jungwirth G et al.

Acta Neuropathologica Communications, 2019

31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP

Urinary Exosomal and cell-free DNA Detects Somatic Mutation and Copy Number Alteration in Urothelial Carcinoma of Bladder.

Lee DH et al.

Scientific Reports, 2018

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Paulussen AD et al.

Human Mutation, 2011

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."