Varaico: Literature-Extracted Genetic Variants

Gene:PPFIA2
Variant:p.R255C
Back to variants list

PPFIA2

NM_003625.5:p.R255C

Associated Papers

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

Guo Q et al.

Cells, 2023

37190086 (PubMed )
Supplement: cells-12-01177-s001.zip › cells-2058969-supplementary › LIst_of_plasmids__20230412_.xlsx › Sheet1

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.

Tibbe D et al.

Life Science Alliance, 2022

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."