Varaico: Literature-Extracted Genetic Variants

Gene:POPDC2
Variant:p.W188*
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POPDC2

NM_001369919.2:p.W188*

Associated Papers

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Nicastro M et al.

American Journal of Human Genetics, 2025

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Nicastro M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Popeye domain containing proteins modulate the voltage-gated cardiac sodium channel Nav1.5.

Rinné S et al.

Iscience, 2024

Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.

Sun CC et al.

Clinical Genetics, 2023

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.

Swan AH et al.

Acta Neuropathologica Communications, 2023

POPDC1 scaffolds a complex of adenylyl cyclase 9 and the potassium channel TREK-1 in heart.

Baldwin TA et al.

Embo Reports, 2022

The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.

Gruscheski L et al.

Journal of Cardiovascular Development and Disease, 2021

POPDC2 a novel susceptibility gene for conduction disorders.

Rinné S et al.

Journal of Molecular and Cellular Cardiology, 2020

POPDC proteins and cardiac function.

Brand T

Biochemical Society Transactions, 2019

The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond.

Swan AH et al.

Journal of Muscle Research and Cell Motility, 2019

The Popeye Domain Containing Genes and Their Function as cAMP Effector Proteins in Striated Muscle.

Brand T

Journal of Cardiovascular Development and Disease, 2018

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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."