Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.E293G
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AIP

NM_003977.4:p.E293G

Associated Papers

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

AIP and its interacting partners.

Trivellin G et al.

The Journal of Endocrinology, 2011

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S et al.

Human Mutation, 2010

The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability.

Vargiolu M et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 2009

Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.

Cazabat L et al.

European Journal of Endocrinology, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A et al.

Human Molecular Genetics, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

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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."