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.P197T

c.589C>A

Surrounding Variants

2 papers

NM_000110.4

p.P197S

c.589C>T

1 paper

NM_000110.4

p.P197P

c.591T>C

1 paper

NM_000110.4

p.G196V

c.587G>T

1 paper

NM_000110.4

p.A198P

c.592G>C

1 paper

NM_000110.4

p.A198V

c.593C>T

2 papers

NM_000110.4

p.A198E

c.593C>A

1 paper

NM_000110.4

p.S199G

c.595A>G

5 papers

NM_000110.4

p.S199N

c.596G>A

2 papers

NM_000110.4

p.G194V

c.581G>T

4 papers

NM_000110.4

p.G194D

c.581G>A

2 papers

NM_000110.4

p.G194S

c.580G>A

2 papers

NM_000110.4

p.I200T

c.599T>C