Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.G221D
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STAR

NM_000349.3:p.G221D

Associated Papers

STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Buonocore F et al.

Journal of the Endocrine Society, 2021

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.

Bae H et al.

Annals of Pediatric Endocrinology & Metabolism, 2020

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

Flück CE et al.

Plos One, 2011

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

Sahakitrungruang T et al.

The Journal of Clinical Endocrinology and Metabolism, 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."