HERC2 c.14284T>A ;(p.C4762S)

Variant ID: 15-28357130-A-T

NM_004667.5(HERC2):c.14284T>A;(p.C4762S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.

Cellular And Molecular Life Sciences : Cmls
Sala-Gaston, Joan J; Pedrazza, Leonardo L; Ramirez, Juanma J; Martinez-Martinez, Arturo A; Rawlins, Lettie E LE; Baple, Emma L EL; Crosby, Andrew H AH; Mayor, Ugo U; Ventura, Francesc F; Rosa, Jose Luis JL
Publication Date: 2022-10-14

Variant appearance in text: HERC2: C4762S
PubMed Link: 36241744
Variant Present in the following documents:
  • Main text
  • 18_2022_4586_MOESM1_ESM.pdf
  • 18_2022_Article_4586.pdf
View BVdb publication page



How to Inactivate Human Ubiquitin E3 Ligases by Mutation.

Frontiers In Cell And Developmental Biology
Garcia-Barcena, Cristina C; Osinalde, Nerea N; Ramirez, Juanma J; Mayor, Ugo U
Publication Date: 2020

Variant appearance in text: HERC2: C4762S
PubMed Link: 32117970
Variant Present in the following documents:
  • Main text
  • fcell-08-00039.pdf
View BVdb publication page



Degradation of the deubiquitinating enzyme USP33 is mediated by p97 and the ubiquitin ligase HERC2.

The Journal Of Biological Chemistry
Chan, Nickie C NC; den Besten, Willem W; Sweredoski, Michael J MJ; Hess, Sonja S; Deshaies, Raymond J RJ; Chan, David C DC
Publication Date: 2014-07-11

Variant appearance in text: HERC2: C4762S
PubMed Link: 24855649
Variant Present in the following documents:
  • Main text
View BVdb publication page