Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.S80N
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SERPINA1

NM_000295.5:p.S80N

Associated Papers

Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.

Wong SH et al.

International Journal of Molecular Sciences, 2020

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Conserved glycine residues in the P-loop of ATP synthases form a doorframe for nucleotide entrance.

Priya R et al.

Journal of Molecular Biology, 2011

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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."