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

2 papers

NM_000110.4

p.P545H

c.1634C>A

Surrounding Variants

1 paper

NM_000110.4

p.P545L

c.1634C>T

1 paper

NM_000110.4

p.P545S

c.1633C>T

1 paper

NM_000110.4

p.P545_F546insTA

c.1633_1637ins6

1 paper

NM_000110.4

p.P545T

c.1633C>A

1 paper

NM_000110.4

p.G547C

c.1639G>T

1 paper

NM_000110.4

p.G547_L548insA

c.1639_1643ins3

6 papers

NM_000110.4

p.G547S

c.1639G>A

1 paper

NM_000110.4

p.I543M

c.1629A>G

196 papers

NM_000110.4

p.I543V

c.1627A>G

1 paper

NM_000110.4

p.I543insFs

c.1627_1628insG

1 paper

NM_000110.4

p.A549S

c.1645G>T

4 papers

NM_000110.4

p.A549P

c.1645G>C