ABCA1 c.6751_6752delinsGC ;(p.L2251A)

Variant ID: 9-107546630-AG-GC

NM_005502.3(ABCA1):c.6751_6752delinsGC;(p.L2251A)

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:

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: L2251A
PubMed Link: 21507939
Variant Present in the following documents:
  • Main text
View BVdb publication page