Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.R60*
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GNAQ

NM_002072.5:p.R60*

Associated Papers

Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling.

Griewank KG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

29891723 (PubMed )
Supplement: 10780432ccr180763-sup-198200_3_supp_4796636_p9nkv7.docx

Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.

Ewens KG et al.

Investigative Ophthalmology & Visual Science, 2014

The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment.

Battaglia A

Clinical Medicine Insights. Oncology, 2014

A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression.

Wiesner T et al.

The American Journal of Surgical Pathology, 2012

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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."