Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 MUTATION
KRT2 MUTATION
KRT2 p.Leu484Pro (p.L484P) ( ENST00000309680.4 )
KRT2 p.Leu484Pro (p.L484P) ( ENST00000309680.4 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994.
- Pubmed
- 15949009
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.484343069953285
- Year of publication
- 2005
Drugs