Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.E22K
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GPR50

NM_004224.3:p.E22K

Associated Papers

β-Sheet Structure within the Extracellular Domain of C99 Regulates Amyloidogenic Processing.

Hu Y et al.

Scientific Reports, 2017

29215043 (PubMed )
Supplement: 41598_2017_17144_MOESM1_ESM.pdf

Familial Alzheimer's disease Osaka mutant (ΔE22) β-barrels suggest an explanation for the different Aβ1-40/42 preferred conformational states observed by experiment.

Jang H et al.

The Journal of Physical Chemistry. B, 2013

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Harris SP et al.

Circulation Research, 2011

MCM1 point mutants deficient in expression of alpha-specific genes: residues important for interaction with alpha 1.

Bruhn L et al.

Molecular and Cellular Biology, 1994

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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."