Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.H228Y
Back to variants list

OPTN

NM_001008212.2:p.H228Y

Associated Papers

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

Gromicho M et al.

Journal of Neurology, 2020

Altered Functions and Interactions of Glaucoma-Associated Mutants of Optineurin.

Swarup G et al.

Frontiers in Immunology, 2018

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

Chi ZL et al.

Human Molecular Genetics, 2010

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."