Varaico: Literature-Extracted Genetic Variants

Gene:HRC
Variant:p.S96A
Back to variants list

HRC

NM_002152.3:p.S96A

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis.

Vafiadaki E et al.

International Journal of Molecular Sciences, 2022

Genetics of atrial fibrillation-practical applications for clinical management: if not now, when and how?

Kany S et al.

Cardiovascular Research, 2021

A secretory pathway kinase regulates sarcoplasmic reticulum Ca2+ homeostasis and protects against heart failure.

Pollak AJ et al.

Elife, 2018

Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant.

Tzimas C et al.

Cardiovascular Research, 2017

Calcium Signaling and Cardiac Arrhythmias.

Landstrom AP et al.

Circulation Research, 2017

RyR2 QQ2958 Genotype and Risk of Malignant Ventricular Arrhythmias.

Galati F et al.

Cardiology Research and Practice, 2016

Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend.

Haghighi K et al.

Journal of Molecular and Cellular Cardiology, 2014

Abnormal calcium cycling and cardiac arrhythmias associated with the human Ser96Ala genetic variant of histidine-rich calcium-binding protein.

Singh VP et al.

Journal of the American Heart Association, 2013

Catecholaminergic-induced arrhythmias in failing cardiomyocytes associated with human HRCS96A variant overexpression.

Han P et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2011

Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure.

Ran Y et al.

Clinical Science (london, England : 1979), 2010

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."