ABCA1 c.6739_6740delinsGC ;(p.L2247A)

Variant ID: 9-107546642-AG-GC

NM_005502.3(ABCA1):c.6739_6740delinsGC;(p.L2247A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Liver X receptor beta (LXRbeta) interacts directly with ATP-binding cassette A1 (ABCA1) to promote high density lipoprotein formation during acute cholesterol accumulation.

The Journal Of Biological Chemistry
Hozoji-Inada, Masako M; Munehira, Youichi Y; Nagao, Kohjiro K; Kioka, Noriyuki N; Ueda, Kazumitsu K
Publication Date: 2011-06-03

Variant appearance in text: ABCA1: L2247A
PubMed Link: 21507939
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct interaction of nuclear liver X receptor-beta with ABCA1 modulates cholesterol efflux.

The Journal Of Biological Chemistry
Hozoji, Masako M; Munehira, Youichi Y; Ikeda, Yuika Y; Makishima, Makoto M; Matsuo, Michinori M; Kioka, Noriyuki N; Ueda, Kazumitsu K
Publication Date: 2008-10-31

Variant appearance in text: ABCA1: L2247A
PubMed Link: 18782758
Variant Present in the following documents:
  • Main text
View BVdb publication page