Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.V617F
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ABCA1

NM_005502.4:p.V617F

Associated Papers

Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.

Monti R et al.

Nature Communications, 2022

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

ABCA1 Exerts Tumor-Suppressor Function in Myeloproliferative Neoplasms.

Viaud M et al.

Cell Reports, 2020

32160545 (PubMed )
Supplement: NIHMS1611055-supplement-Supplemental_Data_and_methods.pdf

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
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