Varaico: Literature-Extracted Genetic Variants

Gene:FSCN2
Variant:p.R109H
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FSCN2

NM_012418.4:p.R109H

Associated Papers

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Lewis MA et al.

Plos Genetics, 2023

38011198 (PubMed )
Supplement: pgen.1011058.s006.xlsx › mouse_deafness_genes

The actin cytoskeleton in hair bundle development and hearing loss.

Park J et al.

Hearing Research, 2023

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Lewis MA et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37163093 (PubMed )
Supplement: media-2.xlsx › Supp._Table_3C

Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.

Lewis MA et al.

Bmc Biology, 2022

35761239 (PubMed )
Supplement: 12915_2022_1349_MOESM2_ESM.xlsx › Table_S3_-_mice

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.

Trpchevska N et al.

American Journal of Human Genetics, 2022

35580588 (PubMed )
Supplement: mmc1.pdf

Espin overexpression causes stereocilia defects and provides an anti-capping effect on actin polymerization.

Zheng L et al.

Cytoskeleton (hoboken, N.j.), 2022

Null Mutation of the Fascin2 Gene by TALEN Leading to Progressive Hearing Loss and Retinal Degeneration in C57BL/6J Mice.

Liu X et al.

G3 (bethesda, Md.), 2018

Plastin 1 widens stereocilia by transforming actin filament packing from hexagonal to liquid.

Krey JF et al.

The Journal of Cell Biology, 2016

Neuroplastin Isoform Np55 Is Expressed in the Stereocilia of Outer Hair Cells and Required for Normal Outer Hair Cell Function.

Zeng WZ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.

Miyasaka Y et al.

Human Molecular Genetics, 2016

Genetics of auditory mechano-electrical transduction.

Michalski N et al.

Pflugers Archiv : European Journal of Physiology, 2015

Quantitative trait loci on chromosome 5 for susceptibility to frequency-specific effects on hearing in DBA/2J mice.

Suzuki S et al.

Experimental Animals, 2015

Causes and consequences of inherited cone disorders.

Roosing S et al.

Progress in Retinal and Eye Research, 2014

The physiology of mechanoelectrical transduction channels in hearing.

Fettiplace R et al.

Physiological Reviews, 2014

R1 motif is the major actin-binding domain of TRIOBP-4.

Bao J et al.

Biochemistry, 2013

β-Actin and fascin-2 cooperate to maintain stereocilia length.

Perrin BJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice.

Shin JB et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

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