LPL c.280_281delinsGC ;(p.K94A)

Variant ID: 8-19809310-AA-GC

NM_000237.2(LPL):c.280_281delinsGC;(p.K94A)

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:

Alteration of negatively charged residues in the 89 to 99 domain of apoA-I affects lipid homeostasis and maturation of HDL.

Journal Of Lipid Research
Kateifides, Andreas K AK; Gorshkova, Irina N IN; Duka, Adelina A; Chroni, Angeliki A; Kardassis, Dimitris D; Zannis, Vassilis I VI
Publication Date: 2011-07

Variant appearance in text: LPL: K94A
PubMed Link: 21504968
Variant Present in the following documents:
  • Main text
View BVdb publication page