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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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