Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.G328V
Back to variants list

ACVR1

NM_001111067.4:p.G328V

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.1_pVACseq

ClinVar: updates to support classifications of both germline and somatic variants.

Landrum MJ et al.

Nucleic Acids Research, 2025

Discovery of highly potent and ALK2/ALK1 selective kinase inhibitors using DNA-encoded chemistry technology.

Jimmidi R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

H3K27M mutant glioma: Disease definition and biological underpinnings.

Saratsis AM et al.

Neuro-oncology, 2024

Lasting response by vertical inhibition with cetuximab and trametinib in KRAS-mutated colorectal cancer patient-derived xenografts.

Reissig TM et al.

Molecular Oncology, 2023

37604687 (PubMed )
Supplement: MOL2-17-2396-s001.pdf

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

A Compendium of Syngeneic, Transplantable Pediatric High-Grade Glioma Models Reveals Subtype-Specific Therapeutic Vulnerabilities.

McNicholas M et al.

Cancer Discovery, 2023

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

Ocasio JK et al.

Cancer Metastasis Reviews, 2023

A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.

Katagiri T et al.

Nature Communications, 2023

Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting.

Nagar G et al.

Briefings in Functional Genomics, 2023

Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.

Ajuyah P et al.

Scientific Reports, 2023

The intrinsic and microenvironmental features of diffuse midline glioma: Implications for the development of effective immunotherapeutic treatment strategies.

Persson ML et al.

Neuro-oncology, 2022

Context-dependent tumor-suppressive BMP signaling in diffuse intrinsic pontine glioma regulates stemness through epigenetic regulation of CXXC5.

Sun Y et al.

Nature Cancer, 2022

Recurrent ACVR1 mutations in posterior fossa ependymoma.

Pratt D et al.

Acta Neuropathologica, 2022

Repurposing Vandetanib plus Everolimus for the Treatment of ACVR1-Mutant Diffuse Intrinsic Pontine Glioma.

Carvalho DM et al.

Cancer Discovery, 2022

Recent Advances in ALK2 Inhibitors.

Rooney L et al.

Acs Omega, 2021

Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.

Katagiri T et al.

Biomedicines, 2021

Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva.

Mori S et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021

Cardiopulmonary and Neurologic Dysfunctions in Fibrodysplasia Ossificans Progressiva.

Khan F et al.

Biomedicines, 2021

Brain stem gliomas and current landscape.

Wummer B et al.

Journal of Neuro-oncology, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

The mechanistic GEMMs of oncogenic histones.

Lindroth AM et al.

Human Molecular Genetics, 2020

Histone-Mutant Glioma: Molecular Mechanisms, Preclinical Models, and Implications for Therapy.

Graham MS et al.

International Journal of Molecular Sciences, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Histone deposition pathways determine the chromatin landscapes of H3.1 and H3.3 K27M oncohistones.

Sarthy JF et al.

Elife, 2020

32902381 (PubMed )
Supplement: elife-61090-supp5.xlsx › Table

Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene.

Matsuoka M et al.

Bone, 2020

Clinical, radiological and molecular characterization of intramedullary astrocytomas.

Lebrun L et al.

Acta Neuropathologica Communications, 2020

Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Li J et al.

Journal of Translational Medicine, 2020

32738923 (PubMed )
Supplement: 12967_2020_2449_MOESM2_ESM.xlsx › Supplementary_Table_S1

Differential kinase activity of ACVR1 G328V and R206H mutations with implications to possible TβRI cross-talk in diffuse intrinsic pontine glioma.

Cao H et al.

Scientific Reports, 2020

Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas.

Fortin J et al.

Cancer Cell, 2020

ALK2: A Therapeutic Target for Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma.

Sekimata K et al.

Chemical & Pharmaceutical Bulletin, 2020

Signal Transduction in Diffuse Intrinsic Pontine Glioma.

Duchatel RJ et al.

Proteomics, 2019

ACVR1 Function in Health and Disease.

Valer JA et al.

Cells, 2019

Tenascin-C expression contributes to pediatric brainstem glioma tumor phenotype and represents a novel biomarker of disease.

Qi J et al.

Acta Neuropathologica Communications, 2019

ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis.

Hoeman CM et al.

Nature Communications, 2019

ALK2 inhibitors display beneficial effects in preclinical models of ACVR1 mutant diffuse intrinsic pontine glioma.

Carvalho D et al.

Communications Biology, 2019

Personalized Treatment of H3K27M-Mutant Pediatric Diffuse Gliomas Provides Improved Therapeutic Opportunities.

Gojo J et al.

Frontiers in Oncology, 2019

31998633 (PubMed )
Supplement: Table_1.XLSX › whole_exome_sequencing_results

Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy.

Panditharatna E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders.

Machiya A et al.

Bone, 2018

1–50 of 79 papers
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."