Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.A172V
Back to variants list

CYP27A1

NM_000784.4:p.A172V

Associated Papers

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Pramparo T et al.

Orphanet Journal of Rare Diseases, 2023

36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated

Twelve positions in a β-lactamase that can expand its substrate spectrum with a single amino acid substitution.

Yi H et al.

Plos One, 2012

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."