Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.Q209P
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GNA11

NM_002067.5:p.Q209P

Associated Papers

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

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

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

Terai M et al.

Journal of Clinical Medicine, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Impact of Driver Mutations on Metastasis-Free Survival in Uveal Melanoma: A Meta-Analysis.

Lamas-Francis D et al.

Cancers, 2024

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

Elbatsh AMO et al.

Nature Cancer, 2024

38233483 (PubMed )
Supplement: 43018_2023_710_MOESM16_ESM.xlsx › Extended_Data_Fig._3

Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.

Huo R et al.

Stroke and Vascular Neurology, 2023

37072338 (PubMed )
Supplement: svn-2022-002227supp001.pdf

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

Pérez-Pérez M et al.

Clinical & Experimental Ophthalmology, 2023

Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors.

Wang HY et al.

Cancer Cell International, 2023

37649078 (PubMed )
Supplement: 12935_2023_3032_MOESM3_ESM.pdf

Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman.

Khatri S et al.

Cureus, 2023

Genetics and RNA Regulation of Uveal Melanoma.

Barbagallo C et al.

Cancers, 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

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

Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Terai M et al.

Cancers, 2021

34830903 (PubMed )
Supplement: cancers-13-05749-s001.zip › cancers-1393069-supplementary.pdf

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Zhou J et al.

Nature Genetics, 2021

Circulating tumor DNA tracking through driver mutations as a liquid biopsy-based biomarker for uveal melanoma.

Bustamante P et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Involvement of mutant and wild-type CYSLTR2 in the development and progression of uveal nevi and melanoma.

Nell RJ et al.

Bmc Cancer, 2021

GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors.

Jansen P et al.

Frontiers in Genetics, 2021

Update on GNA Alterations in Cancer: Implications for Uveal Melanoma Treatment.

Larribère L et al.

Cancers, 2020

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.

Polubothu S et al.

The Journal of Investigative Dermatology, 2020

Segmental congenital hemangiomas: Three cases of a rare entity.

Smith RJ et al.

Pediatric Dermatology, 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

Heterogeneity in Mitogen-Activated Protein Kinase (MAPK) Pathway Activation in Uveal Melanoma With Somatic GNAQ and GNA11 Mutations.

Boru G et al.

Investigative Ophthalmology & Visual Science, 2019

GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.

Francis JH et al.

Ophthalmology, 2019

The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.

Appenzeller S et al.

Cancer, 2019

Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.

Lier A et al.

Jco Precision Oncology, 2018

35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf

The Role of Mutation Rates of GNAQ or GNA11 in Cases of Uveal Melanoma in Japan.

Ominato J et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Bailey MH et al.

Cell, 2018

GNQ-209P Mutation in Metastatic Uveal Melanoma and Treatment Outcome.

Abdel Karim N et al.

Case Reports in Oncological Medicine, 2018

Mosaicism in Cutaneous Disorders.

Lim YH et al.

Annual Review of Genetics, 2017

SOX10 Expression as Well as BRAF and GNAQ/11 Mutations Distinguish Pigmented Ciliary Epithelium Neoplasms From Uveal Melanomas.

Mori T et al.

Investigative Ophthalmology & Visual Science, 2017

Plasma Circulating Tumor DNA Levels for the Monitoring of Melanoma Patients: Landscape of Available Technologies and Clinical Applications.

Busser B et al.

Biomed Research International, 2017

Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11.

Funk T et al.

Jama Dermatology, 2016

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P et al.

Oncotarget, 2016

ERBB activation modulates sensitivity to MEK1/2 inhibition in a subset of driver-negative melanoma.

Hutchinson KE et al.

Oncotarget, 2015

26084293 (PubMed )
Supplement: oncotarget-06-22348-s002.xlsx › Vertical

Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Mackenzie R et al.

Bmc Cancer, 2015

25986173 (PubMed )
Supplement: 12885_2015_1421_MOESM1_ESM.xls › Sheet1

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition.

Hutchinson KE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

The emerging mutational landscape of G proteins and G-protein-coupled receptors in cancer.

O'Hayre M et al.

Nature Reviews. Cancer, 2013

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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."