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HFE c.992A>G ;(p.K331R)
Variant ID: 6-26093446-A-G
NM_000410.3(
HFE
):c.992A>G;(p.K331R)
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:
Ubiquitination of lysine-331 by Kaposi's sarcoma-associated herpesvirus protein K5 targets HFE for lysosomal degradation.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Rhodes, David A DA; Boyle, Louise H LH; Boname, Jessica M JM; Lehner, Paul J PJ; Trowsdale, John J
Publication Date: 2010-09-14
Variant appearance in text: HFE: K331R
PubMed Link:
20805500
Variant Present in the following documents:
Main text
View BVdb publication page