Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.R95C
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ACTG1

NM_001614.5:p.R95C

Associated Papers

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2

DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Mithraprabhu S et al.

Cancers, 2019

31261969 (PubMed )
Supplement: cancers-11-00917-s001.xlsx › TAS_results_n_36__31_RR__5_ND_

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2014

Subdomain location of mutations in cardiac actin correlate with type of functional change.

Mundia MM et al.

Plos One, 2012

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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."