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LRP1 c.652C>A ;(p.Q218K)
Variant ID: 12-57539084-C-A
NM_002332.2(
LRP1
):c.652C>A;(p.Q218K)
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:
Zinc drives a tertiary fold in the prion protein with familial disease mutation sites at the interface.
Structure (London, England : 1993)
Spevacek, Ann R AR; Evans, Eric G B EG; Miller, Jillian L JL; Meyer, Heidi C HC; Pelton, Jeffrey G JG; Millhauser, Glenn L GL
Publication Date: 2013-02-05
Variant appearance in text: LRP1: Q218K
PubMed Link:
23290724
Variant Present in the following documents:
Main text
View BVdb publication page