Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.R258C
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ACAT1

NM_000019.4:p.R258C

Associated Papers

Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.

Lee GY et al.

Kidney International Reports, 2025

41141493 (PubMed )
Supplement: mmc1.pdf

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

35966080 (PubMed )
Supplement: Table_1.xlsx › Table_S4

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park KJ et al.

Annals of Laboratory Medicine, 2016

27578510 (PubMed )
Supplement: alm-36-561-s011.pdf

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table
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