Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP17A1

Variant:p.E330_E331delFs

Back to variants list

CYP17A1

NM_000102.4:p.E330_E331delFs

hg38:chr10:102832656 TCTCC>T

Associated Papers

A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.

Qiao J et al.

European Journal of Endocrinology, 2011

21282350 (PubMed )

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."