Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Tyr49Asp (p.Y49D)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Gly135Arg (p.G135R) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Gly135Cys (p.G135C) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Gln170Ter (p.Q170*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Asp194Asn (p.D194N) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Asp194Tyr (p.D194Y) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Tyr49Asp (p.Y49D) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Gly135Arg (p.G135R) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Gly135Cys (p.G135C) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Gln170Ter (p.Q170*) ( ENST00000714323.1, ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1 )
STK11 p.Asp194Asn (p.D194N) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Asp194Tyr (p.D194Y) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- MELANOMA, CUTANEOUS MALIGNANT, 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs