Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.T451M
Back to variants list

CYP21A2

NM_000500.9:p.T451M

Associated Papers

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.

Prado MJ et al.

Frontiers in Pharmacology, 2022

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

Baumgartner-Parzer S et al.

European Journal of Human Genetics : Ejhg, 2020

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Simonetti L et al.

Human Mutation, 2018

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."