Varaico: Literature-Extracted Genetic Variants

Gene:SCYL1
Variant:p.Q57*
Back to variants list

SCYL1

NM_020680.4:p.Q57*

Associated Papers

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Lenz D et al.

Hepatology (baltimore, Md.), 2024

37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4

A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.

Li Q et al.

Biology, 2021

33557414 (PubMed )
Supplement: biology-10-00119-s001.zip › biology-1064204-supplementary.pdf

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Linders PTA et al.

International Journal of Molecular Sciences, 2020

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Lenz D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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."