Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.Q333*
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KDM6A

NM_001291415.2:p.Q333*

Associated Papers

EZH2 suppresses IR-induced ferroptosis by forming a co-repressor complex with HIF-1α to inhibit ACSL4: Targeting EZH2 enhances radiosensitivity in KDM6A-deficient esophageal squamous carcinoma.

Pan G et al.

Cell Death and Differentiation, 2025

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

KDM6A mutations promote acute cytoplasmic DNA release, DNA damage response and mitosis defects.

Koch J et al.

Bmc Molecular and Cell Biology, 2021

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Recurrent CDKN1B (p27) mutations in hairy cell leukemia.

Dietrich S et al.

Blood, 2015

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-9.xlsx › Supplementary_Table_11

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

van Haaften G et al.

Nature Genetics, 2009

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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."