Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.E447G
Back to variants list

SORT1

NM_002959.7:p.E447G

Associated Papers

Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a).

Clark JR et al.

Journal of Lipid Research, 2022

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

Philtjens S et al.

Neurobiology of Aging, 2018

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.

Tveten K et al.

Atherosclerosis, 2012

Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.

Beaudoin M et al.

Circulation. Cardiovascular Genetics, 2012

22923420 (PubMed )
Supplement: 963165_supplemental_material.pdf
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."