Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.A116V
Back to variants list

DYNAP

NM_173629.3:p.A116V

Associated Papers

Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.

Li X et al.

Investigative Ophthalmology & Visual Science, 2023

Pathogenic mutations within the hydrophobic domain of the prion protein lead to the formation of protease-sensitive prion species with increased lethality.

Coleman BM et al.

Journal of Virology, 2014

Most pathogenic mutations do not alter the membrane topology of the prion protein.

Stewart RS et al.

The Journal of Biological Chemistry, 2001

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."