LDLR c.250_251inv ;(p.P84G)

Variant ID: 19-11213399-CC-GG

NM_000527.4(LDLR):c.250_251inv;(p.P84G)

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: P84G
PubMed Link: 25451932
Variant Present in the following documents:
  • Main text
View BVdb publication page