Varaico: Literature-Extracted Genetic Variants

DPYD

1,264 papers

RefSeq Summary

The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropy...

Pfam Domains

Fer4_20aa 55–168UCSCDihydroprymidine dehydrogenase domain II, 4Fe-4S cluster

Pyr_redox_2aa 188–499UCSCPyridine nucleotide-disulphide oxidoreductase

DHO_dhaa 532–838UCSCDihydroorotate dehydrogenase

Fer4_21aa 946–1004UCSC4Fe-4S dicluster domain

Gene Aliases

HGNC Name

dihydropyrimidine dehydrogenase

HGNC Alias Symbols

DPD; DHPDHase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000110.4

p.S350P

c.1048T>C

Surrounding Variants

1 paper

NM_000110.4

p.S350T

c.1048T>A

1 paper

NM_000110.4

p.S350S

c.1050T>A

1 paper

NM_000110.4

p.T349K

c.1046C>A

2 papers

NM_000110.4

p.A351P

c.1051G>C

1 paper

NM_000110.4

p.A351T

c.1051G>A

1 paper

NM_000110.4

p.A351A

c.1053T>C

1 paper

NM_000110.4

p.A348E

c.1043C>A

3 papers

NM_000110.4

p.L352V

c.1054C>G

2 papers

NM_000110.4

p.L352fs

c.1054_1055fs

2 papers

NM_000110.4

p.L352delFs

c.1054delG

1 paper

NM_000110.4

p.C347S

c.1040G>C

1 paper

NM_000110.4

p.C347Y

c.1040G>A