Varaico: Literature-Extracted Genetic Variants

Gene:TLN1
Variant:p.P229S
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TLN1

NM_006289.4:p.P229S

Associated Papers

De novo talin-1 variant L353F connects multifaceted clinical symptoms to alterations in talin-1 function.

Athale M et al.

The Biochemical Journal, 2025

Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease.

Azizi L et al.

Human Molecular Genetics, 2024

Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms.

Azizi L et al.

Human Molecular Genetics, 2022

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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."