Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.R183L
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GNAQ

NM_002072.5:p.R183L

Associated Papers

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.

Blatt J et al.

Pediatric Blood & Cancer, 2025

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

Longakit AN et al.

Cancer Research Communications, 2025

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

Pilch J et al.

Cancers, 2024

Capillary malformations.

Hammill AM et al.

The Journal of Clinical Investigation, 2024

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

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache.

Sánchez-Espino LF et al.

The Application of Clinical Genetics, 2023

How we approach genetics in the diagnosis and management of vascular anomalies.

Setty BA et al.

Pediatric Blood & Cancer, 2022

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.

Martinez-Glez V et al.

Clinical Genetics, 2022

Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.

Terry M et al.

Free Neuropathology, 2022

Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Ustaszewski A et al.

Archives of Medical Science : Ams, 2021

GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma.

Le Guin CHD et al.

Cancers, 2019

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

Couto JA et al.

Angiogenesis, 2017

BRAF and RAS Mutations in Sporadic and Secondary Pyogenic Granuloma.

Groesser L et al.

The Journal of Investigative Dermatology, 2016

Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.

Couto JA et al.

Plastic and Reconstructive Surgery, 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."