Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.P847L
Back to variants list

ABCA1

NM_005502.4:p.P847L

Associated Papers

Functional characterization of genetic variants affecting the intracellular domains of ATP-binding cassette transporter A1 (ABCA1).

Teigen M et al.

Journal of Lipid Research, 2025

40617357 (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

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Sadananda SN et al.

Journal of Lipid Research, 2015

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."