Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Leu140TrpfsTer21 (p.L140Wfs*21)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Ser240LeufsTer46 (p.S240Lfs*46) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Cys278TrpfsTer6 (p.C278Wfs*6) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Pro281ArgfsTer6 (p.P281Rfs*6) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Leu282SerfsTer5 (p.L282Sfs*5) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Arg297SerfsTer39 (p.R297Sfs*39) ( ENST00000585465.3, ENST00000326873.12, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ile303_His306delinsAsn (p.I303_H306delinsN) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Leu140TrpfsTer21 (p.L140Wfs*21) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ser240LeufsTer46 (p.S240Lfs*46) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Cys278TrpfsTer6 (p.C278Wfs*6) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Pro281ArgfsTer6 (p.P281Rfs*6) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Leu282SerfsTer5 (p.L282Sfs*5) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Arg297SerfsTer39 (p.R297Sfs*39) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ile303_His306delinsAsn (p.I303_H306delinsN) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Glu57Ter (p.E57*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Leu67Pro (p.L67P) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Lys84Ter (p.K84*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 c.465-1G>A ( 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.Trp239Cys (p.W239C) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ser240Trp (p.S240W) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Tyr246Ter (p.Y246*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Tyr253Ter (p.Y253*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Glu293Lys (p.E293K) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Glu293Ter (p.E293*) ( ENST00000326873.12, ENST00000585465.3, ENST00000714322.1, ENST00000714323.1, ENST00000652231.1 )
STK11 p.Ile303Ser (p.I303S) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 c.921-2A>T ( ENST00000585465.3, ENST00000326873.12, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 c.921-1G>T ( ENST00000585465.3, ENST00000326873.12, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Glu57Ter (p.E57*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Leu67Pro (p.L67P) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Lys84Ter (p.K84*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 c.465-1G>A ( 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.Trp239Cys (p.W239C) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ser240Trp (p.S240W) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Tyr246Ter (p.Y246*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Tyr253Ter (p.Y253*) ( ENST00000714323.1, ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1 )
STK11 p.Glu293Lys (p.E293K) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Glu293Ter (p.E293*) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Ile303Ser (p.I303S) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 c.921-2A>T ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 c.921-1G>T ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Glu57GlyfsTer106 (p.E57Gfs*106)
STK11 p.Leu67AlafsTer96 (p.L67Afs*96)
STK11 p.Leu282ProfsTer3 (p.L282Pfs*3)
STK11 p.Asp330GlyfsTer30 (p.D330Gfs*30)
STK11 p.Glu57GlyfsTer106 (p.E57Gfs*106)
STK11 p.Leu67AlafsTer96 (p.L67Afs*96)
STK11 p.Leu282ProfsTer3 (p.L282Pfs*3)
STK11 p.Asp330GlyfsTer30 (p.D330Gfs*30) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.664198424355155
- Year of publication
- NA
Drugs