NSF c.1273_1274delinsAG ;(p.D425S)

Variant ID: 17-44771927-GA-AG

NM_006178.3(NSF):c.1273_1274delinsAG;(p.D425S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Nonviral polymeric nanoparticles for gene therapy in pediatric CNS malignancies.

Nanomedicine : Nanotechnology, Biology, And Medicine
Choi, John J; Rui, Yuan Y; Kim, Jayoung J; Gorelick, Noah N; Wilson, David R DR; Kozielski, Kristen K; Mangraviti, Antonella A; Sankey, Eric E; Brem, Henry H; Tyler, Betty B; Green, Jordan J JJ; Jackson, Eric M EM
Publication Date: 2020-01

Variant appearance in text: NSF: D425s
PubMed Link: 31655205
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutagenesis of a specificity-determining residue in tyrosine hydroxylase establishes that the enzyme is a robust phenylalanine hydroxylase but a fragile tyrosine hydroxylase.

Biochemistry
Daubner, S Colette SC; Avila, Audrey A; Bailey, Johnathan O JO; Barrera, Dimitrios D; Bermudez, Jaclyn Y JY; Giles, David H DH; Khan, Crystal A CA; Shaheen, Noel N; Thompson, Janie Womac JW; Vasquez, Jessica J; Oxley, Susan P SP; Fitzpatrick, Paul F PF
Publication Date: 2013-02-26

Variant appearance in text: NSF: D425S
PubMed Link: 23368961
Variant Present in the following documents:
  • Main text
View BVdb publication page