Annotation Detail
Information
- Associated Genes
- SLU7
- Associated Variants
-
U2AF1 p.Gln157Arg (p.Q157R)
(
ENST00000291552.9,
ENST00000380276.6,
ENST00000459639.5 )
U2AF1 p.Gln157Pro (p.Q157P) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Ser34Phe (p.S34F) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Ser34Tyr (p.S34Y) ( ENST00000459639.5, ENST00000291552.9, ENST00000380276.6 )
U2AF1 p.Gln157Arg (p.Q157R) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Gln157Pro (p.Q157P) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
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
- We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).
- Pubmed
- 25311244
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs