Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.Q209L
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PSAP

NM_002778.4:p.Q209L

Associated Papers

The Role of Mutation Rates of GNAQ or GNA11 in Cases of Uveal Melanoma in Japan.

Ominato J et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 2018

Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system.

Küsters-Vandevelde HV et al.

Acta Neuropathologica, 2010

N-terminal polybasic motifs are required for plasma membrane localization of Galpha(s) and Galpha(q).

Crouthamel M et al.

Cellular Signalling, 2008

Galphaq binds to p110alpha/p85alpha phosphoinositide 3-kinase and displaces Ras.

Ballou LM et al.

The Biochemical Journal, 2006

Protein kinase D3 activation and phosphorylation by signaling through G alpha q.

Yuan J et al.

Biochemical and Biophysical Research Communications, 2005

Identification of a novel site within G protein alpha subunits important for specificity of receptor-G protein interaction.

Heydorn A et al.

Molecular Pharmacology, 2004

Mechanism of persistent protein kinase D1 translocation and activation.

Oancea E et al.

Developmental Cell, 2003

Activation of protein kinase D by signaling through the alpha subunit of the heterotrimeric G protein G(q).

Yuan J et al.

The Journal of Biological Chemistry, 2000

Pituitary adenomas: screening for G alpha q mutations.

Oyesiku NM et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

Mutations of signal-transducing G proteins in human disease.

Schnabel P et al.

Journal of Molecular Medicine (berlin, Germany), 1995

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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."