Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.S306N
Back to variants list

SDS

NM_006843.3:p.S306N

Associated Papers

KLHL24 associated cardiomyopathy: Gene function to clinical management.

Johnson N et al.

Gene, 2025

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hedberg-Oldfors C et al.

Human Molecular Genetics, 2019

30715372 (PubMed )
Supplement: ddz032_supp.zip › HMG-2018-D-01045_Hedberg-Oldfors_Supplemental_data.docx

Asparagine 905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation.

Mikkelsen SA et al.

The Journal of Biological Chemistry, 2019

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."