Transcript #00000052 (NM_139025.3, ADAMTS13 gene)

Transcript name ADAM metallopeptidase with thrombospondin type 1 motif, 13, transcript variant 1
Gene name ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif, 13)
Chromosome 9
Transcript - NCBI ID NM_139025.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_620594.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)
-?/. - c.19C>T r.(?) p.(Arg7Trp)
-?/. - c.19C>T r.(?) p.(Arg7Trp)
-/. - c.19C>T r.(?) p.(Arg7Trp)
+/? ? c.237C>G r.(?) p.(Ile79Met)
+/? ? c.262G>A r.(?) p.(Val88Met)
+/? ? c.286C>G r.(?) p.(His96Asp)
+/? ? c.304C>T r.(?) p.(Arg102Cys)
+/? ? c.356C>T r.(?) p.(Ser119Phe)
-?/. - c.357C>T r.(?) p.(Ser119=)
-/. - c.420C>T r.(?) p.(Ala140=)
+/? ? c.533T>C r.(?) p.(Ile178Thr)
+/? ? c.577C>T r.(?) p.(Arg193Trp)
+/? ? c.577C>T r.(?) p.(Arg193Trp)
-/. - c.582C>T r.(?) p.(Gly194=)
+/? ? c.587C>T r.(?) p.(Thr196Ile)
+/? ? c.587C>T r.(?) p.(Thr196Ile)
+/? ? c.607T>C r.(?) p.(Ser203Pro)
-/. - c.686+4T>G r.spl? p.?
+/? ? c.695T>A r.(?) p.(Leu232Gln)
+/? ? c.702C>A r.(?) p.(His234Gln)
+/? ? c.703G>C r.(?) p.(Asp235His)
+/? ? c.749C>T r.(?) p.(Ala250Val)
-?/. - c.769C>A r.(?) p.(Arg257Ser)
+/? ? c.788C>G r.(?) p.(Ser263Cys)
-?/. - c.802C>A r.(?) p.(Arg268=)
+/? ? c.803G>C r.(?) p.(Arg268Pro)
-?/. - c.824+7G>A r.(=) p.(=)
-/. - c.825-329dup r.(=) p.(=)
-/. - c.825-170T>C r.(=) p.(=)
+/? ? c.911A>G r.(?) p.(Tyr304Cys)
+/? ? c.932G>A r.(?) p.(Cys311Tyr)
-?/. - c.936C>T r.(?) p.(Arg312=)
-/. - c.987+11C>T r.(=) p.(=)
-/. - c.987+69A>C r.(=) p.(=)
-/. - c.988-76G>A r.(=) p.(=)
+/? ? c.1039T>A r.(?) p.(Cys347Ser)
+/? ? c.1045C>T r.(?) p.(Arg349Cys)
+/? ? c.1058C>T r.(?) p.(Pro353Leu)
+?/. - c.1058C>T r.(?) p.(Pro353Leu)
+/? ? c.1058C>T r.(?) p.(Pro353Leu)
-?/. - c.1156C>A r.(?) p.(Arg386Ser)
-?/. - c.1157G>A r.(?) p.(Arg386His)
+/? ? c.1170G>C r.(?) p.(Trp390Cys)
+/? ? c.1193G>A r.(?) p.(Arg398His)
-?/. - c.1245-3C>T r.spl? p.?
-?/. - c.1308+17G>T r.(=) p.(=)
-/. - c.1342C>G r.(?) p.(Gln448Glu)
-/. - c.1342C>G r.(?) p.(Gln448Glu)
?/. - c.1370C>T r.(?) p.(Pro457Leu)
?/. - c.1370C>T r.(?) p.(Pro457Leu)
+/? ? c.1520G>A r.(?) p.(Arg507Gln)
+/? ? c.1520G>A r.(?) p.(Arg507Gln)
+/? ? c.1523G>A r.(?) p.(Cys508Tyr)
+/? ? c.1574G>A r.(?) p.(Gly525Asp)
+/? ? c.1582A>G r.(?) p.(Arg528Gly)
?/. - c.1672C>T r.(?) p.(Arg558Trp)
-/. - c.1716A>G r.(?) p.(Thr572=)
-?/. - c.1787-7C>T r.(=) p.(=)
+/? ? c.1787C>T r.(?) p.(Ala596Val)
+/? ? c.1816G>C r.(?) p.(Ala606Pro)
-/. - c.1852C>G r.(?) p.(Pro618Ala)
?/. - c.1852C>G r.(?) p.(Pro618Ala)
?/. - c.1874G>A r.(?) p.(Arg625His)
-/. - c.1874G>A r.(?) p.(Arg625His)
+/? ? c.1973A>G r.(?) p.(Tyr658Cys)
?/. - c.1976G>A r.(?) p.(Arg659Lys)
+/? ? c.2012C>T r.(?) p.(Pro671Leu)
+/? ? c.2017A>T r.(?) p.(Ile673Phe)
+/? ? c.2074C>T r.(?) p.(Arg692Cys)
-?/. - c.2195C>T r.(?) p.(Ala732Val)
+/? ? c.2272T>C r.(?) p.(Cys758Arg)
-/. - c.2280C>T r.(?) p.(Gly760=)
?/. - c.2294G>A r.(?) p.(Arg765Gln)
-/. - c.2708C>T r.(?) p.(Ser903Leu)
-?/. - c.2708C>T r.(?) p.(Ser903Leu)
+/? ? c.2723G>A r.(?) p.(Cys908Tyr)
+/? ? c.2723G>C r.(?) p.(Cys908Ser)
-?/. - c.2732-20T>G r.(=) p.(=)
+/? ? c.2851T>G r.(?) p.(Cys951Gly)
-/. - c.2861+75G>A r.(=) p.(=)
-/. - c.2910C>T r.(?) p.(Val970=)
-?/. - c.2915G>A r.(?) p.(Arg972Gln)
-/. - c.3045-48T>C r.(=) p.(=)
-/. - c.3045-41G>A r.(=) p.(=)
+/. - c.3047G>A r.(?) p.(Trp1016Ter)
+/? ? c.3070T>G r.(?) p.(Cys1024Gly)
?/. - c.3070T>G r.(?) p.(Cys1024Gly)
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