Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.G83G
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AIP

NM_003977.4:p.G83G

Associated Papers

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Loughrey PB et al.

European Journal of Endocrinology, 2025

40070360 (PubMed )
Supplement: lvaf044_supplementary_data.docx

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Yang M et al.

Npj Precision Oncology, 2025

40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf

Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort.

Xiang B et al.

Endocrine, 2024

Risk category system to identify pituitary adenoma patients with AIP mutations.

Caimari F et al.

Journal of Medical Genetics, 2018

29440248 (PubMed )
Supplement: jmedgenet-2017-104957supp001.docx

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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: 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

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

Igreja S et al.

Human Mutation, 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."