Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.H487Q
Back to variants list

TBC1D24

NM_001199107.2:p.H487Q

Associated Papers

Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.

Sarosiak A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Tona R et al.

The Journal of Biological Chemistry, 2024

39214300 (PubMed )
Supplement: mmc1.docx

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.

Oziębło D et al.

Scientific Reports, 2021

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."