Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.R183*
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GNAQ

NM_002072.5:p.R183*

Associated Papers

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

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

Invasive squamous cell carcinomas and precursor lesions on UV-exposed epithelia demonstrate concordant genomic complexity in driver genes.

Lazo de la Vega L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32461624 (PubMed )
Supplement: NIHMS1590296-supplement-1.pdf

GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.

Francis JH et al.

Ophthalmology, 2019

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.

Karlsson A et al.

Oncotarget, 2015

26124082 (PubMed )
Supplement: oncotarget-06-22028-s003.xlsx › Variants_in_Lund_cohort

A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.

Xia J et al.

Molecular Cancer Therapeutics, 2014

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."