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LRP1 c.1558A>C ;(p.K520Q)
Variant ID: 12-57550700-A-C
NM_002332.2(
LRP1
):c.1558A>C;(p.K520Q)
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:
Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Ghai, Rajesh R; Bugarcic, Andrea A; Liu, Huadong H; Norwood, Suzanne J SJ; Skeldal, Sune S; Coulson, Elizabeth J EJ; Li, Shawn Shun-Cheng SS; Teasdale, Rohan D RD; Collins, Brett M BM
Publication Date: 2013-02-19
Variant appearance in text: LRP1: K520Q
PubMed Link:
23382219
Variant Present in the following documents:
Main text
View BVdb publication page