Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.V107L
Back to variants list

ANKRD1

NM_014391.3:p.V107L

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

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

Multifunctional protein: cardiac ankyrin repeat protein.

Zhang N et al.

Journal of Zhejiang University. Science. B, 2016

Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue.

Crocini C et al.

Basic Research in Cardiology, 2013

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.

Moulik M et al.

Journal of the American College of Cardiology, 2009

Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?

Mestroni L

Journal of the American College of Cardiology, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."