RUNX2 c.613_614delinsGA ;(p.T205E)

Variant ID: 6-45405716-AC-GA

NM_001024630.3(RUNX2):c.613_614delinsGA;(p.T205E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Defined Tau Phosphospecies Differentially Inhibit Fast Axonal Transport Through Activation of Two Independent Signaling Pathways.

Frontiers In Molecular Neuroscience
Morris, Sarah L SL; Tsai, Ming-Ying MY; Aloe, Sarah S; Bechberger, Karin K; König, Svenja S; Morfini, Gerardo G; Brady, Scott T ST
Publication Date: 2020

Variant appearance in text: CCD: T205E
PubMed Link: 33568975
Variant Present in the following documents:
  • Main text
  • fnmol-13-610037.pdf
View BVdb publication page



Pseudophosphorylation of tau at S422 enhances SDS-stable dimer formation and impairs both anterograde and retrograde fast axonal transport.

Experimental Neurology
Tiernan, Chelsea T CT; Combs, Benjamin B; Cox, Kristine K; Morfini, Gerardo G; Brady, Scott T ST; Counts, Scott E SE; Kanaan, Nicholas M NM
Publication Date: 2016-09

Variant appearance in text: CCD: T205E
PubMed Link: 27373205
Variant Present in the following documents:
  • Main text
View BVdb publication page