Varaico: Literature-Extracted Genetic Variants

Gene:H3C3
Variant:p.K28M
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H3C3

NM_003531.3:p.K28M

Associated Papers

An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene.

Reisz Z et al.

Acta Neuropathologica Communications, 2025

AEP-cleaved DDX3X induces alternative RNA splicing events to mediate cancer cell adaptation in harsh microenvironments.

Zhang W et al.

The Journal of Clinical Investigation, 2023

Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation.

Kwak JJ et al.

Investigative Ophthalmology & Visual Science, 2023

Efficient identification of somatic mutations in acute myeloid leukaemia using whole exome sequencing of fingernail derived DNA as germline control.

Kakadia PM et al.

Scientific Reports, 2018

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS4

Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.

Hochart A et al.

Annals of Clinical and Translational Neurology, 2015

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Buczkowicz P et al.

Nature Genetics, 2014

24705254 (PubMed )
Supplement: NIHMS4215-supplement-10.xlsx › Supplementary_Table_3

Exomic sequencing of four rare central nervous system tumor types.

Bettegowda C et al.

Oncotarget, 2013

23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1c
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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."