Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PINK1

Variant:p.K520*

Back to variants list

PINK1

NM_032409.3:p.K520*

hg38:chr1:20650503 A>T

Associated Papers

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Puschmann A et al.

Brain : a Journal of Neurology, 2017

27807026 (PubMed )

Supplement: aww261_supp.zip › brain-2016-00407-File010.pdf

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."