Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTF2H4

Variant:p.Q15K

Back to variants list

GTF2H4

NM_001517.5:p.Q15K

hg38:chr6:30909079 C>A

Associated Papers

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K et al.

Human Molecular Genetics, 2001

11159947 (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."