Varaico: Literature-Extracted Genetic Variants

Gene:PRKCI
Variant:p.I217V
Back to variants list

PRKCI

NM_002740.6:p.I217V

Associated Papers

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Robinson K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867391 (PubMed )
Supplement: media-1.xlsx › ST3_-_All_Rare_Vars
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."