HFE c.979_980delinsGC ;(p.I327A)

Variant ID: 6-26093433-AT-GC

NM_000410.3(HFE):c.979_980delinsGC;(p.I327A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload.

The Journal Of Clinical Investigation
Preza, Gloria C GC; Ruchala, Piotr P; Pinon, Rogelio R; Ramos, Emilio E; Qiao, Bo B; Peralta, Michael A MA; Sharma, Shantanu S; Waring, Alan A; Ganz, Tomas T; Nemeth, Elizabeta E
Publication Date: 2011-12

Variant appearance in text: HFE: I327A
PubMed Link: 22045566
Variant Present in the following documents:
  • Main text
View BVdb publication page



The hepcidin-binding site on ferroportin is evolutionarily conserved.

Cell Metabolism
De Domenico, Ivana I; Nemeth, Elizabeta E; Nelson, Jenifer M JM; Phillips, John D JD; Ajioka, Richard S RS; Kay, Michael S MS; Kushner, James P JP; Ganz, Tomas T; Ward, Diane M DM; Kaplan, Jerry J
Publication Date: 2008-08

Variant appearance in text: HFE: I327A
PubMed Link: 18680715
Variant Present in the following documents:
  • Main text
View BVdb publication page