Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
ENSG00000267699 c.*453_*454delTC, SMAD4 p.Ser144ArgfsTer7 (p.S144Rfs*7)
(
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.*692_*703delGTCCACTGAAGG, SMAD4 p.Ser173_Gly176del (p.S173_G176del) ( 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.*784delC, SMAD4 p.Pro203HisfsTer38 (p.P203Hfs*38) ( 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.Pro278Ter (p.P278*) ( ENST00000588860.6, ENST00000589076.6, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Cys324PhefsTer12 (p.C324Ffs*12) ( 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.Pro346LeufsTer38 (p.P346Lfs*38) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000593223.2, ENST00000714268.1, ENST00000589076.6, ENST00000714269.1, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000588860.6, ENST00000714264.1, ENST00000714270.1, ENST00000714272.1, ENST00000714266.1 )
SMAD4 p.Val348TyrfsTer3 (p.V348Yfs*3) ( 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.His371GlnfsTer13 (p.H371Qfs*13) ( 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.Asp415ThrfsTer21 (p.D415Tfs*21) ( 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) ( 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.Gly423GlufsTer13 (p.G423Efs*13) ( 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.Gln448ArgfsTer38 (p.Q448Rfs*38) ( 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.Ala454GlufsTer21 (p.A454Efs*21) ( 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.Gly471LeufsTer25 (p.G471Lfs*25) ( 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.Ser474Ter (p.S474*) ( 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.Arg515AsnfsTer22 (p.R515Nfs*22) ( 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.Pro522LeufsTer4 (p.P522Lfs*4) ( 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.His530ThrfsTer7 (p.H530Tfs*7) ( ENST00000588745.5, ENST00000398417.6, ENST00000593223.2, ENST00000342988.8, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1, ENST00000590061.2, ENST00000714261.1, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6 )
ENSG00000267699 c.*453_*454delTC, SMAD4 p.Ser144ArgfsTer7 (p.S144Rfs*7) ( 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.*692_*703delGTCCACTGAAGG, SMAD4 p.Ser173_Gly176del (p.S173_G176del) ( 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.*784delC, SMAD4 p.Pro203HisfsTer38 (p.P203Hfs*38) ( 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.Pro278Ter (p.P278*) ( 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.Cys324PhefsTer12 (p.C324Ffs*12) ( 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.Pro346LeufsTer38 (p.P346Lfs*38) ( 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.Val348TyrfsTer3 (p.V348Yfs*3) ( 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.His371GlnfsTer13 (p.H371Qfs*13) ( 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.Asp415ThrfsTer21 (p.D415Tfs*21) ( 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.Gly423GlufsTer13 (p.G423Efs*13) ( 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.Gln448ArgfsTer38 (p.Q448Rfs*38) ( 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.Ala454GlufsTer21 (p.A454Efs*21) ( 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.Gly471LeufsTer25 (p.G471Lfs*25) ( 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.Ser474Ter (p.S474*) ( 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.Arg515AsnfsTer22 (p.R515Nfs*22) ( 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.Pro522LeufsTer4 (p.P522Lfs*4) ( 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.His530ThrfsTer7 (p.H530Tfs*7) ( ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000342988.8, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
ENSG00000267699 c.*212_*220delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN, SMAD4 p.Thr63?fsTer43 (p.T63?fs*43) ( 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.*212_*220delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN, SMAD4 p.Thr63?fsTer43 (p.T63?fs*43) ( 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.*426C>T, SMAD4 p.Arg135Ter (p.R135*) ( ENST00000588860.6, ENST00000398417.6, ENST00000589941.2, ENST00000342988.8, ENST00000588745.5, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000589076.6 )
ENSG00000267699 c.*447+1G>A, SMAD4 c.424+1G>A ( 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.*448-6A>G, SMAD4 c.425-6A>G ( 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.*460T>A, SMAD4 p.Leu146Ter (p.L146*) ( ENST00000398417.6, ENST00000589941.2, ENST00000588745.5, ENST00000342988.8, ENST00000590061.2, ENST00000588860.6, ENST00000589076.6, ENST00000714264.1, ENST00000714266.1, ENST00000714270.1, ENST00000714272.1, ENST00000714268.1, ENST00000593223.2, ENST00000714261.1, ENST00000714269.1 )
ENSG00000267699 c.*709C>G, SMAD4 p.Ser178Ter (p.S178*) ( ENST00000342988.8, ENST00000588745.5, ENST00000398417.6, ENST00000593223.2, ENST00000714261.1, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1 )
ENSG00000267699 c.*714C>T, SMAD4 p.Gln180Ter (p.Q180*) ( ENST00000398417.6, ENST00000588745.5, ENST00000342988.8, ENST00000589941.2, ENST00000588860.6, ENST00000589076.6, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000590061.2, ENST00000714270.1, ENST00000714272.1, ENST00000593223.2 )
SMAD4 p.Cys324Arg (p.C324R) ( ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1 )
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.Tyr353Ser (p.Y353S) ( 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) ( 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.Cys363Arg (p.C363R) ( ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6 )
SMAD4 p.Arg380Lys (p.R380K) ( 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.1139+1G>A ( 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.Gln388Ter (p.Q388*) ( 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.Glu390Lys (p.E390K) ( 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.Trp398Ter (p.W398*) ( ENST00000588745.5, ENST00000593223.2, 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.Tyr412Ter (p.Y412*) ( ENST00000593223.2, ENST00000342988.8, ENST00000588745.5, ENST00000714272.1, ENST00000398417.6, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1 )
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.Gln448Ter (p.Q448*) ( ENST00000342988.8, ENST00000588745.5, ENST00000398417.6, ENST00000593223.2, ENST00000590061.2, ENST00000714268.1, ENST00000714264.1, ENST00000714261.1, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714266.1 )
SMAD4 p.Gly491Val (p.G491V) ( ENST00000714270.1, 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, ENST00000714272.1 )
SMAD4 p.Asp493Ala (p.D493A) ( ENST00000714270.1, ENST00000714272.1, 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 )
SMAD4 p.Trp509Arg (p.W509R) ( 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.Trp509Ter (p.W509*) ( ENST00000398417.6, ENST00000588745.5, ENST00000593223.2, ENST00000714272.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000342988.8, ENST00000714261.1, ENST00000714266.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714264.1 )
SMAD4 p.Gly510Val (p.G510V) ( ENST00000398417.6, ENST00000593223.2, 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.Trp524Leu (p.W524L) ( ENST00000342988.8, ENST00000593223.2, ENST00000588745.5, ENST00000398417.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000590061.2, ENST00000589941.2, ENST00000589076.6, ENST00000588860.6 )
SMAD4 p.Leu533Val (p.L533V) ( ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1 )
ENSG00000267699 c.*426C>T, SMAD4 p.Arg135Ter (p.R135*) ( 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.*447+1G>A, SMAD4 c.424+1G>A ( ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2 )
ENSG00000267699 c.*448-6A>G, SMAD4 c.425-6A>G ( 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.*460T>A, SMAD4 p.Leu146Ter (p.L146*) ( 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.*709C>G, SMAD4 p.Ser178Ter (p.S178*) ( 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.*714C>T, SMAD4 p.Gln180Ter (p.Q180*) ( 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.Cys324Arg (p.C324R) ( ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1 )
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.Tyr353Ser (p.Y353S) ( 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.Cys363Arg (p.C363R) ( 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.Arg380Lys (p.R380K) ( 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.1139+1G>A ( 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.Gln388Ter (p.Q388*) ( 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.Glu390Lys (p.E390K) ( 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.Trp398Ter (p.W398*) ( 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.Tyr412Ter (p.Y412*) ( 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.Gln448Ter (p.Q448*) ( 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.Gly491Val (p.G491V) ( 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.Asp493Ala (p.D493A) ( 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.Trp509Arg (p.W509R) ( 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.Trp509Ter (p.W509*) ( ENST00000342988.8, ENST00000593223.2, ENST00000714261.1, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly510Val (p.G510V) ( 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.Trp524Leu (p.W524L) ( ENST00000714270.1, ENST00000714272.1, 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 )
SMAD4 p.Leu533Val (p.L533V) ( 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.*396_*397insTA, SMAD4 p.Ser125IlefsTer5 (p.S125Ifs*5)
ENSG00000267699 c.*406_*407insCTGTTGT, SMAD4 p.Asn129CysfsTer16 (p.N129Cfs*16)
SMAD4 p.Ser232GlnfsTer3 (p.S232Qfs*3)
SMAD4 p.Pro244ArgfsTer21 (p.P244Rfs*21)
SMAD4 p.Phe310AlafsTer13 (p.F310Afs*13)
SMAD4 p.Tyr328LeufsTer3 (p.Y328Lfs*3)
SMAD4 p.Ala452LeufsTer51 (p.A452Lfs*51)
SMAD4 p.Gly471LeufsTer24 (p.G471Lfs*24)
SMAD4 p.Ser517GlufsTer10 (p.S517Efs*10)
SMAD4 p.Ser517LysfsTer11 (p.S517Kfs*11)
SMAD4 p.Leu529PhefsTer9 (p.L529Ffs*9)
SMAD4 p.His530ThrfsTer47 (p.H530Tfs*47)
SMAD4 p.Asp537ArgfsTer40 (p.D537Rfs*40)
ENSG00000267699 c.*396_*397insTA, SMAD4 p.Ser125IlefsTer5 (p.S125Ifs*5)
ENSG00000267699 c.*406_*407insCTGTTGT, SMAD4 p.Asn129CysfsTer16 (p.N129Cfs*16)
SMAD4 p.Ser232GlnfsTer3 (p.S232Qfs*3)
SMAD4 p.Pro244ArgfsTer21 (p.P244Rfs*21)
SMAD4 p.Phe310AlafsTer13 (p.F310Afs*13)
SMAD4 p.Tyr328LeufsTer3 (p.Y328Lfs*3)
SMAD4 p.Ala452LeufsTer51 (p.A452Lfs*51)
SMAD4 p.Gly471LeufsTer24 (p.G471Lfs*24)
SMAD4 p.Ser517GlufsTer10 (p.S517Efs*10)
SMAD4 p.Ser517LysfsTer11 (p.S517Kfs*11)
SMAD4 p.Leu529PhefsTer9 (p.L529Ffs*9)
SMAD4 p.His530ThrfsTer47 (p.H530Tfs*47)
SMAD4 p.Asp537ArgfsTer40 (p.D537Rfs*40) - Associated Disease
- juvenile polyposis syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.587926175215869
- Year of publication
- NA
Drugs