Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.K302E
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SORT1

NM_002959.7:p.K302E

Associated Papers

Genetic Architecture of Ischemic Stroke: Insights from Genome-Wide Association Studies and Beyond.

Jagodic A et al.

Journal of Cardiovascular Development and Disease, 2025

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.

Akcesme B et al.

Neurogenetics, 2024

Missense variants in SORT1 are associated with LDL-C in an Amish population.

Mitok KA et al.

Journal of Lipid Research, 2023

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

New insights into the genetic etiology of Alzheimer's disease and related dementias.

Bellenguez C et al.

Nature Genetics, 2022

35379992 (PubMed )
Supplement: 41588_2022_1024_MOESM1_ESM.pdf

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

Philtjens S et al.

Neurobiology of Aging, 2018

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

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

Belzil VV et al.

Neurobiology of Aging, 2012

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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