Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S155T
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PKP2

NM_001005242.3:p.S155T

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Nagyova E et al.

Journal of Cardiovascular Translational Research, 2023

37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations

The genetic architecture of Plakophilin 2 cardiomyopathy.

Dries AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34120153 (PubMed )
Supplement: NIHMS1717834-supplement-Supplementary_File_1-_Variant_List.xlsx › MyCode

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S7
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