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LDLR c.238_240delinsCAA ;(p.N80Q)
Variant ID: 19-11213387-AAC-CAA
NM_000527.4(
LDLR
):c.238_240delinsCAA;(p.N80Q)
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:
Distinct roles of N-glycosylation at different sites of corin in cell membrane targeting and ectodomain shedding.
The Journal Of Biological Chemistry
Wang, Hao H; Zhou, Tiantian T; Peng, Jianhao J; Xu, Ping P; Dong, Ningzheng N; Chen, Shenghan S; Wu, Qingyu Q
Publication Date: 2015-01-16
Variant appearance in text: LDLR: N80Q
PubMed Link:
25451932
Variant Present in the following documents:
Main text
View BVdb publication page