LDLR c.1279_1280delinsGC ;(p.R427A)

Variant ID: 19-11224046-AG-GC

NM_000527.4(LDLR):c.1279_1280delinsGC;(p.R427A)

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:

Ectodomain shedding and autocleavage of the cardiac membrane protease corin.

The Journal Of Biological Chemistry
Jiang, Jingjing J; Wu, Shannon S; Wang, Wei W; Chen, Shenghan S; Peng, Jianhao J; Zhang, Xiumei X; Wu, Qingyu Q
Publication Date: 2011-03-25

Variant appearance in text: LDLR: R427A
PubMed Link: 21288900
Variant Present in the following documents:
  • Main text
View BVdb publication page