Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I45V
Back to variants list

SDS

NM_006843.3:p.I45V

Associated Papers

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.

Martinelli G et al.

Leukemia, 2018

28663576 (PubMed )
Supplement: leu2017183x1.docx

Beta-amyloid precursor protein mutants respond to gamma-secretase modulators.

Page RM et al.

The Journal of Biological Chemistry, 2010

{gamma}-Secretase Substrate Concentration Modulates the Abeta42/Abeta40 Ratio: IMPLICATIONS FOR ALZHEIMER DISEASE.

Yin YI et al.

The Journal of Biological Chemistry, 2007

Characterization of the DNA binding and bending HMG domain of the yeast hypoxic repressor Rox1.

Deckert J et al.

Nucleic Acids Research, 1999

Probing protein-protein interactions. The ribose-binding protein in bacterial transport and chemotaxis.

Björkman AJ et al.

The Journal of Biological Chemistry, 1994

Familial Alzheimer's disease mutations in amyloid protein precursor alter proteolysis by γ-secretase to increase amyloid β-peptides of ≥45 residues.

Devkota S et al.

The Journal of Biological Chemistry, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."