Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.R183S
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GNA11

NM_002067.5:p.R183S

Associated Papers

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

Pilch J et al.

Cancers, 2024

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

Zhang B et al.

Pediatric Investigation, 2024

Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.

Tiemann-Boege I et al.

The Febs Journal, 2021

Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.

Thorpe J et al.

The Journal of Investigative Dermatology, 2021

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

Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma.

Piaggio F et al.

Cancers, 2019

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

Kumar A et al.

American Journal of Medical Genetics. Part A, 2019

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.

Thomas AC et al.

The Journal of Investigative Dermatology, 2016

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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."