Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.R16Q
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AHR

NM_001621.5:p.R16Q

Associated Papers

Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas.

Gaspar LM et al.

Journal of Endocrinological Investigation, 2023

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

An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene.

Dinesen PT et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2015

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

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

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer.

Raitila A et al.

Journal of Endocrinological Investigation, 2009

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.

Georgitsi M et al.

British Journal of Cancer, 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."