Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 p.Gln141Lys (p.Q141K)
(
ENST00000237612.8,
ENST00000515655.5,
ENST00000650821.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- In the present work we examined the stability and cellular processing of the Q141K ABCG2 variant, as well as that of the ΔF142 ABCG2, corresponding to the ΔF508 mutation in the CFTR (ABCC7) protein, causing cystic fibrosis.
- Pubmed
- 23800412
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2013
Drugs