LDLR c.993C>A ;(p.D331E)

Variant ID: 19-11221380-C-A

NM_000527.4(LDLR):c.993C>A;(p.D331E)

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:

Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
Poirier, Steve S; Hamouda, Hocine Ait HA; Villeneuve, Louis L; Demers, Annie A; Mayer, Gaétan G
Publication Date: 2016

Variant appearance in text: LDLR: D331E
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
  • pone.0157230.pdf
View BVdb publication page