Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Ser411LeufsTer17 (p.S411Lfs*17)
(
ENST00000588745.5,
ENST00000593223.2,
ENST00000342988.8,
ENST00000714272.1,
ENST00000589076.6,
ENST00000714264.1,
ENST00000714266.1,
ENST00000714268.1,
ENST00000589941.2,
ENST00000714269.1,
ENST00000590061.2,
ENST00000398417.6,
ENST00000588860.6,
ENST00000714261.1,
ENST00000714270.1 )
SMAD4 p.Asp415GlufsTer20 (p.D415Efs*20) ( ENST00000593223.2, ENST00000588745.5, ENST00000342988.8, ENST00000398417.6, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gln446HisfsTer47 (p.Q446Hfs*47) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ala451LeufsTer17 (p.A451Lfs*17) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000593223.2, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ser411LeufsTer17 (p.S411Lfs*17) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Asp415GlufsTer20 (p.D415Efs*20) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gln446HisfsTer47 (p.Q446Hfs*47) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ala451LeufsTer17 (p.A451Lfs*17) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Glu330Gly (p.E330G) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000593223.2, ENST00000714272.1, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2 )
SMAD4 p.Arg361Ser (p.R361S) ( ENST00000588745.5, ENST00000398417.6, ENST00000593223.2, ENST00000589941.2, ENST00000714272.1, ENST00000714261.1, ENST00000714269.1, ENST00000714264.1, ENST00000590061.2, ENST00000714266.1, ENST00000588860.6, ENST00000714268.1, ENST00000342988.8, ENST00000714270.1, ENST00000589076.6 )
SMAD4 p.Arg361Gly (p.R361G) ( ENST00000593223.2, ENST00000714269.1, ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000714272.1, ENST00000714261.1, ENST00000714268.1, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000714270.1, ENST00000714264.1, ENST00000714266.1 )
SMAD4 p.Arg361Cys (p.R361C) ( ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Tyr413Ter (p.Y413*) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 c.1308+1G>T ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg445Ter (p.R445*) ( ENST00000593223.2, ENST00000398417.6, ENST00000342988.8, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gln449Ter (p.Q449*) ( ENST00000593223.2, ENST00000589941.2, ENST00000590061.2, ENST00000588745.5, ENST00000588860.6, ENST00000714266.1, ENST00000714268.1, ENST00000342988.8, ENST00000714272.1, ENST00000398417.6, ENST00000714270.1, ENST00000714269.1, ENST00000714264.1, ENST00000589076.6, ENST00000714261.1 )
SMAD4 p.Arg496Cys (p.R496C) ( ENST00000593223.2, ENST00000714266.1, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000398417.6, ENST00000714268.1, ENST00000589941.2, ENST00000589076.6, ENST00000714272.1, ENST00000714269.1, ENST00000342988.8, ENST00000588860.6, ENST00000588745.5, ENST00000714270.1 )
SMAD4 p.Ile500Val (p.I500V) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Glu330Gly (p.E330G) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361Ser (p.R361S) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361Gly (p.R361G) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg361Cys (p.R361C) ( ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000593223.2, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000588745.5, ENST00000398417.6, ENST00000342988.8, ENST00000714270.1, ENST00000714272.1, ENST00000714269.1, ENST00000714268.1 )
SMAD4 p.Tyr413Ter (p.Y413*) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 c.1308+1G>T ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg445Ter (p.R445*) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gln449Ter (p.Q449*) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Arg496Cys (p.R496C) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ile500Val (p.I500V) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
ENSG00000267699 c.*176_*177insA, SMAD4 p.Asp52ArgfsTer2 (p.D52Rfs*2)
SMAD4 c.904_904+1insCATTACTG
SMAD4 c.904+1_904+2insCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAAG
SMAD4 c.904+1_904+2insCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCAG
SMAD4 p.Asp415ArgfsTer14 (p.D415Rfs*14)
SMAD4 p.Arg420ProfsTer17 (p.R420Pfs*17)
ENSG00000267699 c.*176_*177insA, SMAD4 p.Asp52ArgfsTer2 (p.D52Rfs*2)
SMAD4 c.904_904+1insCATTACTG
SMAD4 c.904+1_904+2insCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAAG
SMAD4 c.904+1_904+2insCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCAG
SMAD4 p.Asp415ArgfsTer14 (p.D415Rfs*14)
SMAD4 p.Arg420ProfsTer17 (p.R420Pfs*17) - Associated Disease
- Neoplastic Syndromes, Hereditary
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.122367031978602
- Year of publication
- NA
Drugs