Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.G48V
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GNAQ

NM_002072.5:p.G48V

Associated Papers

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.

Leon-Quintero FZ et al.

Clinical Genetics, 2025

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

Sturge-Weber syndrome: updates in translational neurology.

Solomon C et al.

Frontiers in Neurology, 2024

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

Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.

Yeom S et al.

American Journal of Medical Genetics. Part A, 2023

Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients.

García-Mulero S et al.

Oncoimmunology, 2023

Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Yu L et al.

Molecular Oncology, 2022

34706158 (PubMed )
Supplement: MOL2-16-607-s006.xls › TCGA_UM_dataset

Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.

Akin-Bali DF

Ophthalmic Genetics, 2021

Functional characterization of uveal melanoma oncogenes.

Ma J et al.

Oncogene, 2021

Trametinib Induces the Stabilization of a Dual GNAQ p.Gly48Leu- and FGFR4 p.Cys172Gly-Mutated Uveal Melanoma. The Role of Molecular Modelling in Personalized Oncology.

Krebs FS et al.

International Journal of Molecular Sciences, 2020

High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms.

Liau JY et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm.

Joseph NM et al.

The American Journal of Surgical Pathology, 2018

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s004.xls › Sheet1
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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."