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.G341A

c.1022G>C

Surrounding Variants

3 papers

NM_000110.4

p.G341R

c.1021G>C

2 papers

NM_000110.4

p.G341R

c.1021G>A

18 papers

NM_000110.4

p.D342N

c.1024G>A

3 papers

NM_000110.4

p.A340V

c.1019C>T

5 papers

NM_000110.4

p.D342G

c.1025A>G

1 paper

NM_000110.4

p.T343A

c.1027A>G

2 papers

NM_000110.4

p.T343P

c.1027A>C

1 paper

NM_000110.4

p.G339A

c.1016G>C

1 paper

NM_000110.4

p.A344T

c.1030G>A

1 paper

NM_000110.4

p.A344V

c.1031C>T

1 paper

NM_000110.4

p.A344G

c.1031C>G

1 paper

NM_000110.4

p.V337V

c.1011A>T