NAGS c.1322A>T ;(p.Y441F)

Variant ID: 17-42085012-A-T

NM_153006.2(NAGS):c.1322A>T;(p.Y441F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms.

Plos One
Zhao, Gengxiang G; Jin, Zhongmin Z; Allewell, Norma M NM; Tuchman, Mendel M; Shi, Dashuang D
Publication Date: 2013

Variant appearance in text: NAGS: Y441F
PubMed Link: 23894642
Variant Present in the following documents:
  • Main text
  • pone.0070369.pdf
View BVdb publication page