Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.K50R
Back to variants list

MYO3A

NM_017433.5:p.K50R

Associated Papers

Myosin-dependent short actin filaments contribute to peripheral widening in developing stereocilia.

Liao X et al.

Nature Communications, 2025

The Prevalence and Clinical Characteristics of MYO3A-Associated Hearing Loss in 15,684 Hearing Loss Patients.

Maekawa K et al.

Genes, 2025

Myosin-dependent short actin filaments contribute to peripheral widening in developing stereocilia.

Liao X et al.

Research Square, 2024

The dynamics of actin protrusions can be controlled by tip-localized myosin motors.

Cirilo JA et al.

The Journal of Biological Chemistry, 2024

Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.

Gunther LK et al.

Molecular Biology of the Cell, 2022

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Souissi A et al.

Journal of Biomolecular Structure & Dynamics, 2022

Myosin 3A kinase activity is regulated by phosphorylation of the kinase domain activation loop.

Quintero OA et al.

The Journal of Biological Chemistry, 2013

Intermolecular autophosphorylation regulates myosin IIIa activity and localization in parallel actin bundles.

Quintero OA et al.

The Journal of Biological Chemistry, 2010

Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.

Salles FT et al.

Nature Cell Biology, 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."