HFE c.1003T>G ;(p.S335A)

Variant ID: 6-26093457-T-G

NM_000410.3(HFE):c.1003T>G;(p.S335A)

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: S335A
PubMed Link: 20805500
Variant Present in the following documents:
  • Main text
View BVdb publication page