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.G569delFs

c.1706delC

Surrounding Variants

1 paper

NM_000110.4

p.G569fs

c.1705_1706fs

1 paper

NM_000110.4

p.W568C

c.1704G>T

1 paper

NM_000110.4

p.W568C

c.1704G>C

3 papers

NM_000110.4

p.A571D

c.1712C>A

1 paper

NM_000110.4

p.G567G

c.1701A>T

1 paper

NM_000110.4

p.G567V

c.1700G>T

3 papers

NM_000110.4

p.G567E

c.1700G>A

20 papers

NM_000110.4

p.L572V

c.1714C>G

1 paper

NM_000110.4

p.L572fs

c.1714_1715fs

1 paper

NM_000110.4

p.L572insFs

c.1714dupC

1 paper

NM_000110.4

p.L572L

c.1716C>T

1 paper

NM_000110.4

p.A566V

c.1697C>T