NSF c.1274A>G ;(p.D425G)

Variant ID: 17-44771928-A-G

NM_006178.3(NSF):c.1274A>G;(p.D425G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: NSF: 1274A>G
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: D425G
PubMed Link: 23368961
Variant Present in the following documents:
  • Main text
View BVdb publication page