Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NMNAT1

Variant:p.Y41S

Back to variants list

NMNAT1

NM_022787.4:p.Y41S

hg38:chr1:9975598 A>C

Associated Papers

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Capasso D et al.

Hgg Advances, 2025

40251809 (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."