Varaico: Literature-Extracted Genetic Variants

Gene:SAMD8
Variant:p.D348E
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SAMD8

NM_001174156.2:p.D348E

Associated Papers

ER residency of the ceramide phosphoethanolamine synthase SMSr relies on homotypic oligomerization mediated by its SAM domain.

Cabukusta B et al.

Scientific Reports, 2017

Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER.

Vacaru AM et al.

The Journal of Cell Biology, 2009

Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide.

Murakami C et al.

The Journal of Biological Chemistry, 0

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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."