Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.V291M
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AIP

NM_003977.4:p.V291M

Associated Papers

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.

Bolger GB et al.

Endocrine-related Cancer, 2016

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A et al.

Endocrine Reviews, 2013

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia.

Occhi G et al.

European Journal of Endocrinology, 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."