Varaico: Literature-Extracted Genetic Variants

Gene:WDFY2
Variant:p.Q18R
Back to variants list

WDFY2

NM_052950.4:p.Q18R

Associated Papers

Demonstration of long-range interactions in a PDZ domain by NMR, kinetics, and protein engineering.

Gianni S et al.

Structure (london, England : 1993), 2006

A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a).

Parson W et al.

Human Mutation, 2004

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."