Varaico: Literature-Extracted Genetic Variants

Gene:TLN1
Variant:p.V2444D
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TLN1

NM_006289.4:p.V2444D

Associated Papers

Consolidation of cell-ECM adhesion through direct talin-mediated actin linkage is essential for mouse embryonic morphogenesis.

Deng W et al.

Communications Biology, 2025

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.

Elefant N et al.

Jci Insight, 2024

Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection.

Turley TN et al.

Circulation. Genomic and Precision Medicine, 2019

Talin regulates moesin-NHE-1 recruitment to invadopodia and promotes mammary tumor metastasis.

Beaty BT et al.

The Journal of Cell Biology, 2014

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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."