Varaico: Literature-Extracted Genetic Variants

Gene:HSPA5
Variant:p.V30M
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HSPA5

NM_005347.5:p.V30M

Associated Papers

SERPINA1 modulates expression of amyloidogenic transthyretin.

Niemietz C et al.

Experimental Cell Research, 2020

Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy.

Panayiotou E et al.

Biochemistry and Biophysics Reports, 2016

Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy in cell model of familial amyloid polyneuropathy.

Li H et al.

Drug Design, Development and Therapy, 2014

Transthyretin (TTR) cardiac amyloidosis.

Ruberg FL et al.

Circulation, 2012

Endoplasmic reticulum quality control regulates the fate of transthyretin variants in the cell.

Sato T et al.

The Embo Journal, 2007

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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."