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LRP1 c.2383_2384delinsGC ;(p.Y795A)
Variant ID: 12-57556280-TA-GC
NM_002332.2(
LRP1
):c.2383_2384delinsGC;(p.Y795A)
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:
SNX17 protects integrins from degradation by sorting between lysosomal and recycling pathways.
The Journal Of Cell Biology
Steinberg, Florian F; Heesom, Kate J KJ; Bass, Mark D MD; Cullen, Peter J PJ
Publication Date: 2012-04-16
Variant appearance in text: LRP1: Y795A
PubMed Link:
22492727
Variant Present in the following documents:
Main text
JCB_201111121.pdf
View BVdb publication page