Varaico: Literature-Extracted Genetic Variants

Gene:PRKCI
Variant:p.R130C
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PRKCI

NM_002740.6:p.R130C

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM12_ESM.xls › ____

Investigation of UTR Variants by Computational Approaches Reveal Their Functional Significance in PRKCI Gene Regulation.

Shah H et al.

Genes, 2023

Impact of deleterious missense PRKCI variants on structural and functional dynamics of protein.

Shah H et al.

Scientific Reports, 2022

The conformational and mutational landscape of the ubiquitin-like marker for autophagosome formation in cancer.

Fas BA et al.

Autophagy, 2021

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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."