Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 p.Glu487Asp (p.E487D)
(
ENST00000309680.4 )
KRT2 p.Glu487= (p.E487=) ( ENST00000309680.4 )
KRT2 p.Glu487Lys (p.E487K) ( ENST00000309680.4 )
KRT2 p.Thr479Pro (p.T479P) ( ENST00000309680.4 )
KRT2 p.Glu476Lys (p.E476K) ( ENST00000309680.4 )
KRT2 p.Asn186Lys (p.N186K) ( ENST00000309680.4 )
KRT2 p.Asn186Tyr (p.N186Y) ( ENST00000309680.4 )
KRT2 p.Asn186Asp (p.N186D) ( ENST00000309680.4 )
KRT2 p.Gln181Leu (p.Q181L) ( ENST00000309680.4 )
KRT2 p.Gln181Pro (p.Q181P) ( ENST00000309680.4 )
KRT2 p.Glu487Asp (p.E487D) ( ENST00000309680.4 )
KRT2 p.Glu487= (p.E487=) ( ENST00000309680.4 )
KRT2 p.Glu487Lys (p.E487K) ( ENST00000309680.4 )
KRT2 p.Thr479Pro (p.T479P) ( ENST00000309680.4 )
KRT2 p.Glu476Lys (p.E476K) ( ENST00000309680.4 )
KRT2 p.Asn186Lys (p.N186K) ( ENST00000309680.4 )
KRT2 p.Asn186Tyr (p.N186Y) ( ENST00000309680.4 )
KRT2 p.Asn186Asp (p.N186D) ( ENST00000309680.4 )
KRT2 p.Gln181Leu (p.Q181L) ( ENST00000309680.4 )
KRT2 p.Gln181Pro (p.Q181P) ( ENST00000309680.4 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.484343069953285
- Year of publication
- NA
Drugs