Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.Q212*
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STAR

NM_000349.3:p.Q212*

Associated Papers

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

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Phadte A et al.

Clinical Endocrinology, 2024

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.

Higa M et al.

Human Genome Variation, 2021

Steroidogenic acute regulatory protein in white sturgeon (Acipenser transmontanus): cDNA cloning, sites of expression and transcript abundance in corticosteroidogenic tissue after an acute stressor.

Kusakabe M et al.

General and Comparative Endocrinology, 2009

Phenotypic features of 46, XX females with StAR protein mutations.

Bhangoo A et al.

Pediatric Endocrinology Reviews : Per, 2007

Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

Bhangoo A et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.

Stocco DM

Molecular and Cellular Endocrinology, 2002

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

Bose HS et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.

Stratakis CA et al.

Critical Reviews in Clinical Laboratory Sciences, 1999

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.

Nakae J et al.

Human Molecular Genetics, 1997

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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."