Varaico: Literature-Extracted Genetic Variants

Gene:MAPK14
Variant:p.R49C
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MAPK14

NM_139012.3:p.R49C

Associated Papers

Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death.

Xi JH et al.

The Journal of Biological Chemistry, 2008

The small heat shock proteins and their role in human disease.

Sun Y et al.

The Febs Journal, 2005

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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."