Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.*152R
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NPPA

NM_006172.4:p.*152R

Associated Papers

Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.

Ebrahim MA et al.

Circulation. Genomic and Precision Medicine, 2025

40265264 (PubMed )
Supplement: circcvg-2024-004896-s01.pdf

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Potential association between frequent nonsynonymous variant of NPPA and cardioembolic stroke.

Kim JH et al.

Dna and Cell Biology, 2012

The genetics of loop diuretic effects.

Vormfelde SV et al.

The Pharmacogenomics Journal, 2012

Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene.

Jeoung JW et al.

Korean Journal of Ophthalmology : Kjo, 2007

Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes.

Kim SH et al.

Molecular Vision, 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."