LDLR c.1228_1229delinsGC ;(p.R410A)

Variant ID: 19-11223995-AG-GC

NM_000527.4(LDLR):c.1228_1229delinsGC;(p.R410A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry
Susan-Resiga, Delia D; Girard, Emmanuelle E; Kiss, Robert Scott RS; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Awan, Zuhier Z; Butkinaree, Chutikarn C; Fleury, Alexandre A; Soldera, Armand A; Dory, Yves L YL; Baass, Alexis A; Seidah, Nabil G NG
Publication Date: 2017-02-03

Variant appearance in text: LDLR: R410A
PubMed Link: 27998977
Variant Present in the following documents:
  • Main text
View BVdb publication page



v-SNARE cellubrevin is required for basolateral sorting of AP-1B-dependent cargo in polarized epithelial cells.

The Journal Of Cell Biology
Fields, Ian C IC; Shteyn, Elina E; Pypaert, Marc M; Proux-Gillardeaux, Véronique V; Kang, Richard S RS; Galli, Thierry T; Fölsch, Heike H
Publication Date: 2007-05-07

Variant appearance in text: LDLR: R410A
PubMed Link: 17485489
Variant Present in the following documents:
  • Main text
  • jcb1770477.pdf
View BVdb publication page