Varaico: Literature-Extracted Genetic Variants

Gene:KMT5A
Variant:p.D240A
Back to variants list

KMT5A

NM_020382.7:p.D240A

Associated Papers

EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome.

Kato S et al.

Blood Advances, 2024

38429084 (PubMed )
Supplement: BLOODA_ADV-2023-012019-mmc1.pdf

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Liu X et al.

Npj Precision Oncology, 2021

34007008 (PubMed )
Supplement: 41698_2021_180_MOESM3_ESM.xlsx › Sheet1

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy.

Krook MA et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371345 (PubMed )
Supplement: supp_mcs.a004002_Supplemental_S9.xlsx › Sheet1

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Shen Y et al.

Nature Communications, 2019

30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS

Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer.

Li Y et al.

Gigascience, 2012

23587365 (PubMed )
Supplement: 2047-217X-1-12-S5.xls › Table_S2B
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."