Varaico: Literature-Extracted Genetic Variants

Gene:CYP11A1
Variant:p.R460W
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CYP11A1

NM_000781.3:p.R460W

Associated Papers

A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.

Alhamoudi KM et al.

Heliyon, 2024

39157388 (PubMed )
Supplement: mmc1.docx

Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.

Redouane S et al.

Computational Biology and Chemistry, 2023

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Maharaj A et al.

Journal of the Endocrine Society, 2019

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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."