Varaico: Literature-Extracted Genetic Variants

Gene:H3-3B
Variant:p.G34V
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H3-3B

NM_005324.5:p.G34V

Associated Papers

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

Sangree AK et al.

Journal of Translational Medicine, 2026

Diffuse hemispheric glioma, H3 G34-mutant, a single centre experience and histopathological analysis.

Amer F et al.

Virchows Archiv : an International Journal of Pathology, 2025

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

Sangree AK et al.

Biorxiv : the Preprint Server for Biology, 2025

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Lubin EE et al.

Hgg Advances, 2025

40241305 (PubMed )
Supplement: mmc4.xlsx › Sheet11

Outcomes From a Contemporary Mono-Institutional Cohort of Histone-Mutant Diffuse Hemispheric Glioma: A Rare and Aggressive Pediatric-Type High-Grade Primary Brain Tumor.

Jeeva M et al.

Brain Tumor Research and Treatment, 2025

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Layo-Carris DE et al.

European Journal of Human Genetics : Ejhg, 2024

Aberrant DNA repair reveals a vulnerability in histone H3.3-mutant brain tumors.

Giacomini G et al.

Nucleic Acids Research, 2024

Histone mutations in cancer.

Espinoza Pereira KN et al.

Biochemical Society Transactions, 2023

Oncohistones and disrupted development in pediatric-type diffuse high-grade glioma.

Ocasio JK et al.

Cancer Metastasis Reviews, 2023

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.

Khazaei S et al.

Cell, 2023

H3.3-G34 mutations impair DNA repair and promote cGAS/STING-mediated immune responses in pediatric high-grade glioma models.

Haase S et al.

The Journal of Clinical Investigation, 2022

Histone H3.3 G34-mutant Diffuse Gliomas in Adults.

Wang L et al.

The American Journal of Surgical Pathology, 2022

Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone.

Wągrodzki M et al.

International Journal of Molecular Sciences, 2022

Chromatin mutations in pediatric high grade gliomas.

Voon HPJ et al.

Frontiers in Oncology, 2022

A common classification framework for histone sequence alterations in tumours: an expert consensus proposal.

Leske H et al.

The Journal of Pathology, 2021

Regional identity of human neural stem cells determines oncogenic responses to histone H3.3 mutants.

Bressan RB et al.

Cell Stem Cell, 2021

33631116 (PubMed )
Supplement: mmc2.xlsx › Meta_Data_Tumour

Alternative lengthening of telomeres in molecular subgroups of paediatric high-grade glioma.

Minasi S et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021

Correlation Between Immunohistochemistry and Sequencing in H3G34-Mutant Gliomas.

Gianno F et al.

The American Journal of Surgical Pathology, 2021

Surprising phenotypic diversity of cancer-associated mutations of Gly 34 in the histone H3 tail.

Lowe BR et al.

Elife, 2021

H3 G34-mutant high-grade glioma.

Lim KY et al.

Brain Tumor Pathology, 2021

Brain stem gliomas and current landscape.

Wummer B et al.

Journal of Neuro-oncology, 2021

Effects of H3.3G34V mutation on genomic H3K36 and H3K27 methylation patterns in isogenic pediatric glioma cells.

Huang TY et al.

Acta Neuropathologica Communications, 2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Bryant L et al.

Science Advances, 2020

Histone H3.3 G34 mutations promote aberrant PRC2 activity and drive tumor progression.

Jain SU et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

The mechanistic GEMMs of oncogenic histones.

Lindroth AM et al.

Human Molecular Genetics, 2020

Base-resolution methylomes of gliomas bearing histone H3.3 mutations reveal a G34 mutant-specific signature shared with bone tumors.

Sangatsuda Y et al.

Scientific Reports, 2020

Reciprocal H3.3 gene editing identifies K27M and G34R mechanisms in pediatric glioma including NOTCH signaling.

Chen KY et al.

Communications Biology, 2020

32647372 (PubMed )
Supplement: 42003_2020_1076_MOESM8_ESM.pdf

Histone H3.3 mutation in giant cell tumor of bone: an update in pathology.

Yamamoto H et al.

Medical Molecular Morphology, 2020

Giant cell tumor of soft tissue of the breast: Case report with H3F3A mutation analysis and review of the literature.

Luangxay T et al.

Pathology, Research and Practice, 2020

Applications of molecular neuro-oncology - a review of diffuse glioma integrated diagnosis and emerging molecular entities.

Wood MD et al.

Diagnostic Pathology, 2019

The expanding landscape of 'oncohistone' mutations in human cancers.

Nacev BA et al.

Nature, 2019

30894748 (PubMed )
Supplement: NIHMS1522658-supplement-Supp_Table_4.xlsx › Unique_Patients_TMB____2

Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation.

Jethanandani A et al.

Frontiers in Oncology, 2019

Rpp29 regulates histone H3.3 chromatin assembly through transcriptional mechanisms.

Shastrula PK et al.

The Journal of Biological Chemistry, 2018

Histone H3.3 G34 Mutations Alter Histone H3K36 and H3K27 Methylation In Cis.

Shi L et al.

Journal of Molecular Biology, 2018

Diagnostic utility of histone H3.3 G34W, G34R, and G34V mutant-specific antibodies for giant cell tumors of bone.

Yamamoto H et al.

Human Pathology, 2018

Highly recurrent H3F3A mutations with additional epigenetic regulator alterations in giant cell tumor of bone.

Ogura K et al.

Genes, Chromosomes & Cancer, 2017

The Histone Variant H3.3 in Transcriptional Regulation and Human Disease.

Shi L et al.

Journal of Molecular Biology, 2017

Evaluation of a novel antibody to define histone 3.3 G34R mutant brain tumours.

Haque F et al.

Acta Neuropathologica Communications, 2017

Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma.

Huang TY et al.

Acta Neuropathologica Communications, 2017

Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma.

Cleven AH et al.

The American Journal of Surgical Pathology, 2015

Isocitrate dehydrogenase mutations: new opportunities for translational research.

Keum YS et al.

Bmb Reports, 2015

Brainstem oligodendroglial tumors in children: two case reports and review of literatures.

Fukuoka K et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2015

Altered global histone-trimethylation code and H3F3A-ATRX mutation in pediatric GBM.

Pathak P et al.

Journal of Neuro-oncology, 2015

Pathology, Molecular Genetics, and Epigenetics of Diffuse Intrinsic Pontine Glioma.

Buczkowicz P et al.

Frontiers in Oncology, 2015

Epigenetic dysregulation: a novel pathway of oncogenesis in pediatric brain tumors.

Fontebasso AM et al.

Acta Neuropathologica, 2014

Unique genetic and epigenetic mechanisms driving paediatric diffuse high-grade glioma.

Jones C et al.

Nature Reviews. Cancer, 2014

Histone H3.3 is required to maintain replication fork progression after UV damage.

Frey A et al.

Current Biology : Cb, 2014

25201682 (PubMed )
Supplement: mmc1.pdf
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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."