Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.I280V
Back to variants list

ANKRD1

NM_014391.3:p.I280V

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Ankyrin repeat domain 1: A novel gene for cardiac septal defects.

Yang Y et al.

The Journal of Gene Medicine, 2019

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5

Multifunctional protein: cardiac ankyrin repeat protein.

Zhang N et al.

Journal of Zhejiang University. Science. B, 2016

Cytosolic CARP promotes angiotensin II- or pressure overload-induced cardiomyocyte hypertrophy through calcineurin accumulation.

Chen C et al.

Plos One, 2014

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

Crocini C et al.

Basic Research in Cardiology, 2013

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.

Arimura T 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."