Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K317R
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SDS

NM_006843.3:p.K317R

Associated Papers

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ et al.

Human Molecular Genetics, 2016

27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf

Increased acetylation of lysine 317/320 of p53 caused by BCR-ABL protects from cytoplasmic translocation of p53 and mitochondria-dependent apoptosis in response to DNA damage.

Kusio-Kobialka M et al.

Apoptosis : an International Journal on Programmed Cell Death, 2012

Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively.

Fondeur-Gelinotte M et al.

Glycobiology, 2007

An essential role of human Ada3 in p53 acetylation.

Nag A et al.

The Journal of Biological Chemistry, 2007

Signal transduction and cellular functions of the TEL/ARG oncoprotein.

Okuda K et al.

Leukemia, 2005

Functionally important residues of aromatic L-amino acid decarboxylase probed by sequence alignment and site-directed mutagenesis.

Ishii S et al.

Journal of Biochemistry, 1996

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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."