ABCA1 c.427_428delinsGC ;(p.K143A)

Variant ID: 9-107624075-TT-GC

NM_005502.3(ABCA1):c.427_428delinsGC;(p.K143A)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Exosome-Mediated Transfer of Anti-miR-33a-5p from Transduced Endothelial Cells Enhances Macrophage and Vascular Smooth Muscle Cell Cholesterol Efflux.

Human Gene Therapy
Stamatikos, Alexis A; Knight, Ethan E; Vojtech, Lucia L; Bi, Lianxiang L; Wacker, Bradley K BK; Tang, Chongren C; Dichek, David A DA
Publication Date: 2020-02

Variant appearance in text: ABCA1: K143A
PubMed Link: 31842627
Variant Present in the following documents:
  • Main text
View BVdb publication page


ABCA1 Overexpression in Endothelial Cells In Vitro Enhances ApoAI-Mediated Cholesterol Efflux and Decreases Inflammation.

Human Gene Therapy
Stamatikos, Alexis A; Dronadula, Nagadhara N; Ng, Philip P; Palmer, Donna D; Knight, Ethan E; Wacker, Bradley K BK; Tang, Chongren C; Kim, Francis F; Dichek, David A DA
Publication Date: 2019-02

Variant appearance in text: ABCA1: K143A
PubMed Link: 30079772
Variant Present in the following documents:
  • Main text
View BVdb publication page