Annotation Detail
Information
- Associated Genes
- U2AF1
- Associated Variants
-
U2AF1 p.Ser34Phe (p.S34F)
(
ENST00000291552.9,
ENST00000380276.6,
ENST00000459639.5 )
U2AF1 p.Ser34Tyr (p.S34Y) ( ENST00000459639.5, ENST00000291552.9, ENST00000380276.6 )
U2AF1 p.Ser34Phe (p.S34F) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Ser34Tyr (p.S34Y) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 ) - Associated Disease
- Miller Dieker syndrome
- Source Database
- DisGeNET
- Description
- These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.
- Pubmed
- 25311244
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs