NAGS c.698C>G ;(p.A233G)

Variant ID: 17-42083276-C-G

NM_153006.2(NAGS):c.698C>G;(p.A233G)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The pupylation machinery is involved in iron homeostasis by targeting the iron storage protein ferritin.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Küberl, Andreas A; Polen, Tino T; Bott, Michael M
Publication Date: 2016-04-26

Variant appearance in text: NAGS: A233G
PubMed Link: 27078093
Variant Present in the following documents:
  • Main text
View BVdb publication page