LDLR c.1378_1379delinsGC ;(p.H460A)

Variant ID: 19-11224230-CA-GC

NM_000527.4(LDLR):c.1378_1379delinsGC;(p.H460A)

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:

Enhanced acyl-CoA:cholesterol acyltransferase activity increases cholesterol levels on the lipid droplet surface and impairs adipocyte function.

The Journal Of Biological Chemistry
Xu, Yanqing Y; Du, Ximing X; Turner, Nigel N; Brown, Andrew J AJ; Yang, Hongyuan H
Publication Date: 2019-12-13

Variant appearance in text: LDLR: H460A
PubMed Link: 31727739
Variant Present in the following documents:
  • Main text
View BVdb publication page