Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIGI

Variant:p.D550Y

Back to variants list

RIGI

NM_014314.4:p.D550Y

hg38:chr9:32480345 C>A

Associated Papers

A novel pathogenic mutation of DDX58 causes Singleton-Merten syndrome.

Peng S et al.

Fundamental Research, 2025

41467011 (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."