Transcript #00019407 (NM_005359.5, SMAD4 gene)

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 -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

610 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ - c.? r.(?) p.?
+/+ - c.? r.(?) p.?
?/? - c.? r.(?) p.?
?/? - c.? r.(?) p.(?)
?/? - c.? r.(?) p.(?)
./. - c.-194457_*29410343del r.0? p.0?
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0
+/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0
?/+ _1 c.(?_-1382)_(-128+2238_-127-1)del r.0? p.0?
+/? _1_1i c.(?_-538)_(-128+1_-127-1)del r.0? p.0?
+/? _1_9i c.(?_-538)_(1139+1_1140-1)del r.0? p.0?
?/+ _1_9i c.(?_-538)_(1139+1_1140-1)del r.0? p.0?
?/+ _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0
?/+ _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0
?/? _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0
?/? _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0
?/? _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0?
+/+ _1_12_ c.(?_-538)_(*6575_?)del r.0 p.0
+/. _1_12_ c.-358_*6575del r.0 p.0
+/. _1_12_ c.-358_*6575del r.0 p.0
+/. _1_12_ c.-358_*6575del r.0 p.0
+/. _1_12_ c.-358_*6575del r.0 p.0
-?/. - c.-127-11_-127-10del r.(=) p.(=)
-?/. - c.-127-9C>T r.(=) p.(=)
-?/. - c.-127-2A>T r.spl? p.?
?/. - c.-127-2A>T r.spl? p.?
-?/. - c.-127-2_-127del r.spl? p.?
-?/. - c.-127-1G>T r.spl? p.?
?/? _2_9i c.(?_-127-1)_(1139+1_1140-1)del r.0? p.0?
+/. _2_3i c.(?_-1)_(424+1_425-1)del r.? p.?
+/. _2_9i c.(?_-1)_(1139+1_1140-1)del r.? p.?
+/. _2_9i c.(?_-1)_(1139+1_1140-1)del r.? p.?
?/? 2 c.20C>T r.(?) p.(Thr7Met)
?/? 2 c.20C>T r.(?) p.(Thr7Met)
?/? 2 c.20C>T r.(?) p.(Thr7Met)
-?/. - c.21G>A r.(?) p.(Thr7=)
-?/. - c.21G>A r.(?) p.(Thr7=)
?/? 2 c.38A>G r.(?) p.(Asn13Ser)
+/? 1 c.38A>G r.(?) p.(Asn13Ser)
-?/. - c.150A>G r.(?) p.(Lys50=)
+/+ 2 c.153del r.(?) p.(Asp52Metfs*6)
+?/. - c.153dup r.(?) p.Asp52Argfs*2
?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del)
?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del)
-?/. - c.228A>G r.(?) p.(Arg76=)
-?/. - c.228A>G r.(?) p.(Arg76=)
-?/. - c.228A>G r.(?) p.(Arg76=)
-?/. - c.249+14G>A r.(=) p.(=)
-/. - c.249+24A>G r.(=) p.(=)
-/. 2i c.249+24A>G r.(=) p.(=)
-?/. - c.249+71A>G r.(=) p.(=)
-?/. - c.250-10A>G r.(=) p.(=)
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16)
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16)
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16)
+/+ 3 c.260_261del r.(?) p.(Arg87Glnfs*16)
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)
-?/. - c.294C>T r.(?) p.(Leu98=)
+/? 3 c.302G>A r.(?) p.(Trp101*)
-?/. - c.354G>A r.(?) p.(Ala118=)
-/. - c.354G>A r.(?) p.(Ala118=)
-?/. - c.354G>A r.(?) p.(Ala118=)
-/. - c.354G>A r.(?) p.(Ala118=)
-?/. - c.354G>A r.(?) p.(Ala118=)
+/+ 3 c.373_374insAT r.(?) p.(Ser125Asnfs*5)
?/+ 3 c.375_381dup r.(?) p.(Val128Cysfs*17)
+/+ 3 c.375_381dup r.(?) p.(Val128Cysfs*17)
?/. 4 c.380G>T r.(?) p.(Cys127Phe)
?/? 3 c.380G>T r.(?) p.(Cys127Phe)
?/. - c.400G>A r.(?) p.(Glu134Lys)
+/. 2 c.403C>T r.(?) p.(Arg135*)
+/+ 3 c.403C>T r.(?) p.(Arg135*)
+/+ 3 c.403C>T r.(?) p.(Arg135*)
+/. - c.403C>T r.(?) p.(Arg135Ter)
+/+ 3 c.403C>T r.(?) p.(Arg135*)
+/+ 3 c.403C>T r.(?) p.(Arg135*)
?/+ 3i c.424+1G>A r.spl p.?
+/+ 2i c.424+1G>A r.spl p.?
?/. - c.424+5G>A r.(?) p.?
-/? 3i 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.424+19C>A r.(=) p.(=)
?/. - c.425-6A>G r.spl? p.(=)
+/+ 3i c.425-6A>G r.spl? p.(=)
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7)
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7)
+/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7)
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7)
+/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7)
+/+ 4 c.437T>A r.(?) p.(Leu146*)
+/+ 2 c.437T>A r.(?) p.(Leu146*)
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