Varaico: Literature-Extracted Genetic Variants

Gene:HM13
Variant:p.D219A
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HM13

NM_178581.3:p.D219A

Associated Papers

Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Grigorenko AP et al.

Oncotarget, 2017

29137240 (PubMed )
Supplement: oncotarget-08-82006-s001.pdf

Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein.

Moliaka YK et al.

Febs Letters, 2004

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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."