Varaico: Literature-Extracted Genetic Variants

Gene:CYP51A1
Variant:p.I383V
Back to variants list

CYP51A1

NM_000786.4:p.I383V

Associated Papers

Maternal cholesterol deficiency predisposes congenital heart defects risk.

Gu Y et al.

Signal Transduction and Targeted Therapy, 2025

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.

Režen T et al.

Frontiers in Pharmacology, 2017

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."