Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.P194A
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PLIN1

NM_002666.5:p.P194A

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.

Cecchetti C et al.

Frontiers in Endocrinology, 2021

Structural Capacitance in Protein Evolution and Human Diseases.

Li C et al.

Journal of Molecular Biology, 2018

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-AO-A03R-01A.domain

Study of the impact of perilipin polymorphisms in a French population.

Meirhaeghe A et al.

Journal of Negative Results in Biomedicine, 2006

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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."