Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.V628A
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ABCA1

NM_005502.4:p.V628A

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

Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.

Dash R et al.

International Journal of Molecular Sciences, 2020

33066695 (PubMed )
Supplement: ijms-21-07606-s001.zip › Supplementary_Files › Supplementary_File_1..xlsx › Sheet1
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