Variant ID: 12-57548045-A-T


This variant was identified in 1 publication


Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.

Journal Of Lipid Research
HM Gu, A Adijiang, M Mah, DW Zhang
Publication Date: 2013-12

Variant appearance in text: LRP1: D299V
PubMed Link: 24103783
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000243077.3 c.896A>T p.Asp299Val missense_variant 7/89 -
ENST00000554174.1 c.896A>T p.Asp299Val missense_variant 7/8 -
NM_002332.3 c.896A>T p.Asp299Val missense_variant 7/89 -