Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.S117A
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SREBF1

NM_004176.5:p.S117A

Associated Papers

Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia.

Kotzka J et al.

Atherosclerosis, 2011

MAP kinases Erk1/2 phosphorylate sterol regulatory element-binding protein (SREBP)-1a at serine 117 in vitro.

Roth G et al.

The Journal of Biological Chemistry, 2000

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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."