Varaico: Literature-Extracted Genetic Variants

Gene:SCD
Variant:p.M224L
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SCD

NM_005063.5:p.M224L

Associated Papers

Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis.

Susán HK et al.

Nutrients, 2024

Allele-specific effect of various dietary fatty acids and ETS1 transcription factor on SCD1 expression.

Tibori K et al.

Scientific Reports, 2024

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Molecular Mechanisms Underlying the Elevated Expression of a Potentially Type 2 Diabetes Mellitus Associated SCD1 Variant.

Tibori K et al.

International Journal of Molecular Sciences, 2022

The transcriptional and mutational landscapes of lipid metabolism-related genes in colon cancer.

Fernández LP et al.

Oncotarget, 2018

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
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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."