Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.C1477F
Back to variants list

ABCA1

NM_005502.4:p.C1477F

Associated Papers

Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.

Teigen M et al.

Journal of Lipid Research, 2024

38052254 (PubMed )
Supplement: mmc1.pdf

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Akbari P et al.

Nature Communications, 2022

35999217 (PubMed )
Supplement: 41467_2022_32398_MOESM4_ESM.xlsx › Supp._Data_4

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 2018

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Marín-Martín FR et al.

Cholesterol, 2014

Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol.

Berge KE et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects.

Kiss RS et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 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."