HFE c.575A>T ;(p.Q192L)

Variant ID: 6-26091776-A-T

NM_000410.3(HFE):c.575A>T;(p.Q192L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Human cytomegalovirus evades antibody-mediated immunity through endoplasmic reticulum-associated degradation of the FcRn receptor.

Nature Communications
Liu, Xiaoyang X; Palaniyandi, Senthilkumar S; Zhu, Iowis I; Tang, Jin J; Li, Weizhong W; Wu, Xiaoling X; Ochsner, Susan Park SP; Pauza, C David CD; Cohen, Jeffrey I JI; Zhu, Xiaoping X
Publication Date: 2019-07-09

Variant appearance in text: HFE: Q192L
PubMed Link: 31289263
Variant Present in the following documents:
  • Main text
  • 41467_2019_10865_MOESM1_ESM.pdf
  • 41467_2019_Article_10865.pdf
View BVdb publication page



Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I.

Molecular Immunology
van den Boomen, D J H DJ; Lehner, P J PJ
Publication Date: 2015-12

Variant appearance in text: HFE: Q192L
PubMed Link: 26210183
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Efficient detection of proteins retro-translocated from the ER to the cytosol by in vivo biotinylation.

Plos One
Petris, Gianluca G; Vecchi, Lara L; Bestagno, Marco M; Burrone, Oscar R OR
Publication Date: 2011

Variant appearance in text: HFE: Q192L
PubMed Link: 21887304
Variant Present in the following documents:
  • Main text
  • pone.0023712.pdf
View BVdb publication page