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HFE c.1025A>G ;(p.Y342C)
Variant ID: 6-26094432-A-G
NM_000410.3(
HFE
):c.1025A>G;(p.Y342C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin.
Blood
Schmidt, Paul J PJ; Andrews, Nancy C NC; Fleming, Mark D MD
Publication Date: 2010-12-16
Variant appearance in text: HFE: Y342C
PubMed Link:
20837779
Variant Present in the following documents:
Main text
View BVdb publication page
HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Drakesmith, Hal H; Chen, Nan N; Ledermann, Hannah H; Screaton, Gavin G; Townsend, Alain A; Xu, Xiao-Ning XN
Publication Date: 2005-08-02
Variant appearance in text: HFE: Y342C
PubMed Link:
16043695
Variant Present in the following documents:
Main text
View BVdb publication page