Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.S42C
Back to variants list

SNCA

NM_000345.4:p.S42C

Associated Papers

Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cells.

Kakade P et al.

Open Biology, 2022

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

34893635 (PubMed )
Supplement: 41531_2021_258_MOESM1_ESM.pdf

Structure and dynamics of the extended-helix state of alpha-synuclein: Intrinsic lability of the linker region.

Sung YH et al.

Protein Science : a Publication of the Protein Society, 2018

The role of the C-terminus of human α-synuclein: intra-disulfide bonds between the C-terminus and other regions stabilize non-fibrillar monomeric isomers.

Hong DP et al.

Febs Letters, 2011

E46K Parkinson's-linked mutation enhances C-terminal-to-N-terminal contacts in alpha-synuclein.

Rospigliosi CC et al.

Journal of Molecular Biology, 2009

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 2008

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

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."