Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.K102R
Back to variants list

TBL1XR1

NM_024665.7:p.K102R

Associated Papers

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC et al.

Endocrine Reviews, 2000

Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.

Bobba A et al.

Journal of Medical Genetics, 1997

Mutations in steroid 21-hydroxylase (CYP21).

White PC et al.

Human Mutation, 1994

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."