Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DSG2

Variant:p.N287K

Back to variants list

DSG2

NM_001943.5:p.N287K

hg38:chr18:31524735 C>A

Associated Papers

Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.

Patel DM et al.

The Journal of Cell Biology, 2014

25225338 (PubMed )

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

23911551 (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."