Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.Y268*
Back to variants list

AIP

NM_003977.4:p.Y268*

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

Frequency of familial pituitary adenoma syndromes among patients with functioning pituitary adenomas in a reference outpatient clinic.

Marques NV et al.

Journal of Endocrinological Investigation, 2017

AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.

Araujo PB et al.

Endocrine Connections, 2017

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Regulation of aryl hydrocarbon receptor interacting protein (AIP) protein expression by MiR-34a in sporadic somatotropinomas.

Dénes J et al.

Plos One, 2015

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

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

Familial isolated pituitary adenoma: evidence for genetic heterogeneity.

Toledo RA et al.

Frontiers of Hormone Research, 2010

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

Cazabat L et al.

Hormone Research, 2009

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma.

Toledo RA et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."