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LDLR c.2458_2459delinsGA ;(p.S820D)
Variant ID: 19-11240257-AG-GA
NM_000527.4(
LDLR
):c.2458_2459delinsGA;(p.S820D)
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:
FERM-dependent E3 ligase recognition is a conserved mechanism for targeted degradation of lipoprotein receptors.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Calkin, Anna C AC; Goult, Benjamin T BT; Zhang, Li L; Fairall, Louise L; Hong, Cynthia C; Schwabe, John W R JW; Tontonoz, Peter P
Publication Date: 2011-12-13
Variant appearance in text: LDLR: S820D
PubMed Link:
22109552
Variant Present in the following documents:
Main text
View BVdb publication page