Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.A203D
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STAR

NM_000349.3:p.A203D

Associated Papers

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

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.

King SR et al.

Endocrine Development, 2011

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

Flück CE et al.

Plos One, 2011

Replacement of alanine with asparagic acid at position 203 in human steroidogenic acute regulatory protein impairs the ability to enhance steroidogenesis in vitro.

Katsumata N et al.

Endocrine Journal, 2006

Phenotypic variations in lipoid congenital adrenal hyperplasia.

Bhangoo A et al.

Pediatric Endocrinology Reviews : Per, 2006

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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."