Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.F48I
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SDS

NM_006843.3:p.F48I

Associated Papers

AKT1 mediates multiple phosphorylation events that functionally promote HSF1 activation.

Lu WC et al.

The Febs Journal, 2022

Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase.

Udhane SS et al.

Frontiers in Pharmacology, 2017

Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA.

Saijo M et al.

The Journal of Biological Chemistry, 2011

Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase.

Pandey AV et al.

Biochemical and Biophysical Research Communications, 2010

Restoration of mutant cytochrome P450 reductase activity by external flavin.

Nicolo C et al.

Molecular and Cellular Endocrinology, 2010

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N et al.

American Journal of Human Genetics, 2005

Escherichia coli DNA polymerase III tau- and gamma-subunit conserved residues required for activity in vivo and in vitro.

Walker JR et al.

Journal of Bacteriology, 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."