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RUNX2 c.1181A>T ;(p.Y394F)
Variant ID: 6-45514657-A-T
NM_001024630.3(
RUNX2
):c.1181A>T;(p.Y394F)
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:
Phosphorylation of the overlooked tyrosine 310 regulates the structure, aggregation, and microtubule- and lipid-binding properties of Tau.
The Journal Of Biological Chemistry
Ait-Bouziad, Nadine N; Chiki, Anass A; Limorenko, Galina G; Xiao, Shifeng S; Eliezer, David D; Lashuel, Hilal A HA
Publication Date: 2020-06-05
Variant appearance in text: CCD: Y394F
PubMed Link:
32341125
Variant Present in the following documents:
Main text
zbc7905.pdf
View BVdb publication page
Conformational States Control Lck Switching between Free and Confined Diffusion Modes in T Cells.
Biophysical Journal
Hilzenrat, Geva G; Pandžić, Elvis E; Yang, Zhengmin Z; Nieves, Daniel J DJ; Goyette, Jesse J; Rossy, Jérémie J; Ma, Yuanqing Y; Gaus, Katharina K
Publication Date: 2020-03-24
Variant appearance in text: CCD: Y394F
PubMed Link:
32097620
Variant Present in the following documents:
Main text
View BVdb publication page