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LDLRAP1 c.856_857delinsGC ;(p.C286A)
Variant ID: 1-25893412-TG-GC
NM_015627.2(
LDLRAP1
):c.856_857delinsGC;(p.C286A)
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:
S-nitrosylation of ARH is required for LDL uptake by the LDL receptor.
Journal Of Lipid Research
Zhao, Zhenze Z; Pompey, Shanica S; Dong, Hongyun H; Weng, Jian J; Garuti, Rita R; Michaely, Peter P
Publication Date: 2013-06
Variant appearance in text: ARH: C286A
PubMed Link:
23564733
Variant Present in the following documents:
Main text
View BVdb publication page