Variant ID: 12-57548044-GA-AG

NM_002332.2(LRP1):c.895_896delinsAG;(p.Asp299Ser)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: D299S
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.895_896delinsAG p.Asp299Ser missense_variant 7/89 -
ENST00000554174.1 c.895_896delinsAG p.Asp299Ser missense_variant 7/8 -
NM_002332.3 c.895_896delinsAG p.Asp299Ser missense_variant 7/89 -