LDLR c.2432A>G ;(p.K811R)

Variant ID: 19-11240231-A-G

NM_000527.4(LDLR):c.2432A>G;(p.K811R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deubiquitylase Inhibition Reveals Liver X Receptor-independent Transcriptional Regulation of the E3 Ubiquitin Ligase IDOL and Lipoprotein Uptake.

The Journal Of Biological Chemistry
Nelson, Jessica Kristine JK; Cook, Emma Clare Laura EC; Loregger, Anke A; Hoeksema, Marten Anne MA; Scheij, Saskia S; Kovacevic, Igor I; Hordijk, Peter Lodewijk PL; Ovaa, Huib H; Zelcer, Noam N
Publication Date: 2016-02-26

Variant appearance in text: LDLR: K811R
PubMed Link: 26719329
Variant Present in the following documents:
  • Main text
View BVdb publication page