HFE c.1003_1005delinsATG ;(p.S335M)

Variant ID: 6-26093457-TCA-ATG

NM_000410.3(HFE):c.1003_1005delinsATG;(p.S335M)

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:

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: S335M
PubMed Link: 20837779
Variant Present in the following documents:
  • Main text
View BVdb publication page