Transcript #00000078 (NM_000110.3, DPYD gene)

Transcript name dihydropyrimidine dehydrogenase, transcript variant 1
Gene name DPYD (dihydropyrimidine dehydrogenase)
Chromosome 1
Transcript - NCBI ID NM_000110.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000101.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

206 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
./. - c.-1427187_*543783del r.? p.? -
./. - c.-463957_*3733049del r.? p.? -
+/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.spl p.? -
+/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.? p.? -
-?/. - c.5C>T r.(?) p.(Ala2Val) -
-?/. - c.37G>A r.(?) p.(Glu13Lys) -
+?/. 2 c.62G>A r.62g>a p.Arg21Gln DPYD*12
-?/. - c.73C>T r.(?) p.(His25Tyr) -
-/. - c.85= r.(=) p.(Cys29=) -
+?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9A
+?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9B
-?/. 2 c.85C= r.(=) p.Arg29= DPYD*9A
+/. 2 c.85C= r.85c= p.Arg29= -
+?/. 2 c.85C= - p.Arg29= -
-/- 2 c.85C>T r.85c>u p.Arg29Cys DPYD*1
?/. - c.85C>T r.85c>u p.Arg29Cys -
?/. - c.85C>T r.85c>u p.Arg29Cys -
+/. - c.299_302del r.(?) p.(Phe100SerfsTer15) -
+/+? 4 c.299_302del r.299_302del p.Phe100Serfs*15 DPYD*7
-?/. - c.465G>A r.(?) p.(Leu155=) -
-?/. - c.484-5C>T r.spl? p.? -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
./. 6 c.496A>G r.(?) p.(Met166Val) -
-?/. 6 c.496A>G r.(?) p.(Met166Val) -
-?/. 6 c.496A>G r.(?) p.(Met166Val) -
-/. - c.496A>G r.496a>g p.Met166Val -
?/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.496A>G r.(?) p.(Met166Val) -
-/. - c.496A>G r.(?) p.(Met166Val) -
?/. - c.557A>G r.(?) p.(Tyr186Cys) -
?/. - c.557A>G r.(?) p.(Tyr186Cys) -
-?/. - c.557A>G r.(?) p.(Tyr186Cys) -
+?/+? 7 c.703C>T r.703c>u p.Arg235Trp DPYD*8
?/. - c.731A>C r.(?) p.(Glu244Ala) -
?/. - c.768T>G r.(?) p.(Ile256Met) -
-/. - c.775A>G r.(?) p.(Lys259Glu) -
?/. - c.775A>G r.(?) p.(Lys259Glu) -
-?/. - c.775A>G r.(?) p.(Lys259Glu) -
?/. 10 c.1003G>T r.1003g>u p.Val335Leu DPYD*11
-/. - c.1129-15T>C r.(=) p.(=) -
-?/. - c.1140T>C r.(?) p.(Ala380=) -
+/+ 11 c.1156G>T r.1156g>u p.Glu386* DPYD*12
?/. - c.1210G>T r.(?) p.(Val404Phe) -
?/. - c.1217T>C r.(?) p.(Met406Thr) -
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA
-/. - c.1236G>A r.(=) p.(=) -
-/. - c.1236G>A r.(=) p.(=) -
+/. 11 c.1236G>A r.(=) p.(Glu412=) -
+/. 11 c.1236G>A r.(=) p.(=) -
+/+ 11 c.1236G>A r.spl? p.(Glu412=) -
+/. - c.1256G>A r.(?) p.(Trp419Ter) -
-?/. - c.1360A>G r.(?) p.(Ile454Val) -
?/. - c.1475C>T r.(?) p.(Ser492Leu) -
-/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1601G>A r.(?) p.(Ser534Asn) -
-/- 13 c.1601G>A r.1601g>a p.Ser534Asn DPYD*4
-/. - c.1601G>A r.(?) p.(Ser534Asn) -
?/. - c.1615G>A r.(?) p.(Gly539Arg) -
-/- 13 c.1627A= r.1627a= p.Ile543= DPYD*2A
-/. 13 c.1627A= r.(=) p.(Ile543=) DPYD*2A
-/- 13 c.1627A= r.(=) p.(Ile543=) DPYD*2A
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
-/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
?/. - c.1627A>G r.(?) p.(Ile543Val) -
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