Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.Q209P
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GNAQ

NM_002072.5:p.Q209P

Associated Papers

Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.

Slørdahl KS et al.

Acta Oncologica (stockholm, Sweden), 2026

41664938 (PubMed )
Supplement: AO-65-45086-s1.pdf

Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.

Henslee SB et al.

Lymphatic Research and Biology, 2026

Early genetic evolution of driver mutations in uveal melanoma.

Dollar JJ et al.

Nature Communications, 2025

Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.

Knöpfel N et al.

The British Journal of Dermatology, 2025

GNAQ mutation in primary spinal melanoma: illustrative case.

Hayes Meizoso C et al.

Journal of Neurosurgery. Case Lessons, 2025

Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.

Lim S et al.

Annals of Laboratory Medicine, 2025

40888113 (PubMed )
Supplement: alm-46-2-210-supple.pdf

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

40745211 (PubMed )
Supplement: 44321_2025_274_MOESM1_ESM.pdf

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations.

Del Carpio LP et al.

European Journal of Cancer (oxford, England : 1990), 2025

Unveiling the molecular landscape and clinically relevant molecular heterogeneity of mucosal melanoma of the head and neck region.

Ricci C et al.

Histopathology, 2025

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

Early Genetic Evolution of Driver Mutations in Uveal Melanoma.

Dollar JJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc3.xlsx › nSMs

Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.

Skrehot HC et al.

American Journal of Ophthalmology Case Reports, 2025

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

O'Sullivan S et al.

American Journal of Medical Genetics. Part A, 2025

Phase II Study of Niraparib in Patients With Advanced Melanoma With Homologous Recombination Pathway Gene Mutations.

Kim KB et al.

Jco Precision Oncology, 2025

Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.

Terai M et al.

Journal of Clinical Medicine, 2025

Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.

Nell RJ et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40240901 (PubMed )
Supplement: 13046_2025_3374_MOESM2_ESM.xlsx › Supplementary_Table_1

Identification of diagnostic and prognostic genetic alterations in uveal melanoma using RNA sequencing.

Nell RJ et al.

Scientific Reports, 2025

40059100 (PubMed )
Supplement: 41598_2025_90122_MOESM2_ESM.xlsx › Supplementary_Table_2

Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.

Longakit AN et al.

Cancer Research Communications, 2025

Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma.

Chen Y et al.

Bmc Biology, 2025

An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.

Massimino M et al.

Biomolecules, 2025

39858540 (PubMed )
Supplement: biomolecules-15-00146-s001.zip › Figure_S1.pdf

Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.

Toumi E et al.

Cancers, 2024

Phase II Trial of the PARP Inhibitor, Niraparib, in BAP1 and Other DNA Damage Response Pathway-Deficient Neoplasms.

George TJ et al.

Jco Precision Oncology, 2024

From Genomic Exploration to Personalized Treatment: Next-Generation Sequencing in Oncology.

Vashisht V et al.

Current Issues in Molecular Biology, 2024

GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.

Pilch J et al.

Cancers, 2024

Sporadic hypertrophic and nodular port-wine stain: a study of 27 cases with emphasis on histological features and novel mutation type.

Xue S et al.

Journal of Clinical Pathology, 2024

The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma.

Nguyen JQN et al.

Investigative Ophthalmology & Visual Science, 2024

39374010 (PubMed )
Supplement: iovs-65-12-11_s001.pdf

The roles of genetic mutation and cytokines/chemokines in immune response and their association with uveal melanoma patient outcome.

Yong Liu et al.

Heliyon, 2024

Tumor-intrinsic P2RY6 drives immunosuppression by enhancing PGE2 production.

Xu X et al.

Cell Reports, 2024

The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for Druggable EGFR Variants in Non-Small-Cell Lung Cancer.

Szpechcinski A et al.

International Journal of Molecular Sciences, 2024

39063150 (PubMed )
Supplement: ijms-25-07908-s001.zip › ijms-3103240-supplementary.pdf

Systems modeling of oncogenic G-protein and GPCR signaling reveals unexpected differences in downstream pathway activation.

Trogdon M et al.

Npj Systems Biology and Applications, 2024

Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

Zhu F et al.

The Journal of International Medical Research, 2024

39053449 (PubMed )
Supplement: sj-xlsx-3-imr-10.1177_03000605241258171.xlsx › Table_S6

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.

Zhang B et al.

Pediatric Investigation, 2024

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Revencu N et al.

Orphanet Journal of Rare Diseases, 2024

38778413 (PubMed )
Supplement: 13023_2024_3196_MOESM2_ESM.xlsx › GNAQ_CH

The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group.

van Poppelen NM et al.

Investigative Ophthalmology & Visual Science, 2024

Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature.

Kapoor R et al.

Diagnostic Pathology, 2024

INPP5A phosphatase is a synthetic lethal target in GNAQ and GNA11-mutant melanomas.

Elbatsh AMO et al.

Nature Cancer, 2024

Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.

de Bruyn DP et al.

Investigative Ophthalmology & Visual Science, 2024

Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy Samples.

Harter J et al.

The Journal of Molecular Diagnostics : Jmd, 2024

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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."