Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.M1I
Back to variants list

PRKAR1A

NM_002734.5:p.M1I

Associated Papers

Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.

Wernig J et al.

Jcem Case Reports, 2024

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

Robinson-White A et al.

Human Molecular Genetics, 2003

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

Groussin L et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).

Stratakis CA

Annals of the New York Academy of Sciences, 2002

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

Kirschner LS et al.

Human Molecular Genetics, 2000

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."