Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.V573I
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SCNN1A

NM_001038.6:p.V573I

Associated Papers

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B

Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.

Chew NJ et al.

Breast Cancer Research : Bcr, 2021

34344433 (PubMed )
Supplement: 13058_2021_1461_MOESM7_ESM.xlsx › KCC_P_4043_Tumour

The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.

Hong S et al.

Nature Communications, 2019

31311932 (PubMed )
Supplement: 41467_2019_10902_MOESM7_ESM.xlsx › Sheet1

Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

Hanukoglu I et al.

Gene, 2016

Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.

Brennan ML et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Mutesa L et al.

Chest, 2009

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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."