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HP c.166_167delinsGC ;(p.Y56A)
Variant ID: 16-72090506-TA-GC
NM_005143.3(
HP
):c.166_167delinsGC;(p.Y56A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characterization of Two NMN Deamidase Mutants as Possible Probes for an NMN Biosensor.
International Journal Of Molecular Sciences
Camarca, Alessandra A; Minazzato, Gabriele G; Pennacchio, Angela A; Capo, Alessandro A; Amici, Adolfo A; D'Auria, Sabato S; Raffaelli, Nadia N
Publication Date: 2021-06-13
Variant appearance in text: HP: Y56A
PubMed Link:
34199271
Variant Present in the following documents:
Main text
ijms-22-06334.pdf
View BVdb publication page
A fragile balance: perturbation of GABA mediated circuit in prefrontal cortex generates high intraindividual performance variability.
Plos One
Pouget, Pierre P; Wattiez, Nicolas N; Rivaud-PĂ©choux, Sophie S; Gaymard, Bertrand B
Publication Date: 2009
Variant appearance in text: HP: Y56A
PubMed Link:
19381296
Variant Present in the following documents:
View BVdb publication page
Nucleosome recognition by the Piccolo NuA4 histone acetyltransferase complex.
Biochemistry
Berndsen, Christopher E CE; Selleck, William W; McBryant, Steven J SJ; Hansen, Jeffrey C JC; Tan, Song S; Denu, John M JM
Publication Date: 2007-02-27
Variant appearance in text: HP: Y56A
PubMed Link:
17274630
Variant Present in the following documents:
Main text
View BVdb publication page