Transcript #00000205

Transcript name SMAD family member 4
Gene name SMAD4 (SMAD family member 4)
Chromosome 18
Transcript - NCBI ID NM_005359.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_005350.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

108 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.228A>G r.(=) p.(=)
./. - c.228A>G r.(=) p.(=)
./. - c.228A>G r.(=) p.(=)
./. - c.228A>G r.(=) p.(=)
./. - c.228A>G r.(=) p.(=)
./. - c.249+21T>A r.(=) p.(=)
./. - c.249+22C>A r.(=) p.(=)
./. - c.250-49_250-48del r.(=) p.(=)
./. - c.250-49_250-48del r.(=) p.(=)
./. - c.294C>T r.(=) p.(=)
./. - c.294C>T r.(=) p.(=)
./. - c.347del r.(?) p.(Gln116Argfs*6)
./. - c.354G>A r.(=) p.(=)
./. - c.354G>A r.(=) p.(=)
./. - c.354G>A r.(=) p.(=)
./. - c.424+1G>A r.spl? p.?
./. - c.424+1G>A r.spl? p.?
./. - c.424+3A>C r.spl? p.?
./. - c.424+3A>C r.spl? p.?
./. - c.424+5G>A r.spl? p.?
./. - c.424+5G>A r.spl? p.?
./. - c.424+5G>A r.spl? p.?
./. - c.424+5G>A r.spl? p.?
./. - c.454+38G>C r.(=) p.(=)
./. - c.454+38G>C r.(=) p.(=)
./. - c.454+38G>C r.(=) p.(=)
./. - c.454+38G>C r.(=) p.(=)
./. - c.533C>G r.(?) p.(Ser178*)
./. - c.627C>T r.(=) p.(=)
./. - c.667+3G>C r.spl? p.?
./. - c.667+3G>C r.spl? p.?
./. - c.677C>T r.(?) p.(Ala226Val)
./. - c.885G>A r.(=) p.(=)
./. - c.894C>T r.(=) p.(=)
./. - c.904+30_904+31del r.(=) p.(=)
./. - c.904+30_904+31del r.(=) p.(=)
./. - c.904+30_904+31del r.(=) p.(=)
./. - c.904+30_904+31dup r.(=) p.(=)
./. - c.904+30_904+31dup r.(=) p.(=)
./. - c.904+31dup r.(=) p.(=)
./. - c.904+47G>T r.(=) p.(=)
./. - c.905-8T>C r.(=) p.(=)
./. - c.905-8T>C r.(=) p.(=)
./. - c.905-8T>C r.(=) p.(=)
./. - c.905-8T>C r.(=) p.(=)
./. - c.909T>G r.(=) p.(=)
./. - c.917A>G r.(?) p.(Asn306Ser)
./. - c.956-46A>T r.(=) p.(=)
./. - c.1082G>C r.(?) p.(Arg361Pro)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1086T>C r.(=) p.(=)
./. - c.1139+41G>A r.(=) p.(=)
./. - c.1139+49C>A r.(=) p.(=)
./. - c.1287C>T r.(=) p.(=)
./. - c.1308+32C>A r.(=) p.(=)
./. - c.1308+33_1308+34del r.(=) p.(=)
./. - c.1308+33_1308+34del r.(=) p.(=)
./. - c.1308+33_1308+34del r.(=) p.(=)
./. - c.1308+38G>A r.(=) p.(=)
./. - c.1448-51T>G r.(=) p.(=)
./. - c.1448-49G>C r.(=) p.(=)
./. - c.1448-49G>C r.(=) p.(=)
./. - c.1448-49G>C r.(=) p.(=)
./. - c.1448-49G>C r.(=) p.(=)
./. - c.1448-24T>C r.(=) p.(=)
./. - c.1555_1558del r.(?) p.(Glu520Hisfs*16)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
./. - c.*11C>T r.(=) p.(=)
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