Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.V179M
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GNAQ

NM_002072.5:p.V179M

Associated Papers

Capillary malformations.

Hammill AM et al.

The Journal of Clinical Investigation, 2024

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Li D et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley MD et al.

The New England Journal of Medicine, 2013

Mutations in GNA11 in uveal melanoma.

Van Raamsdonk CD et al.

The New England Journal of Medicine, 2010

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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."