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

19 papers

NM_000110.4

p.S201R

c.603T>G

Surrounding Variants

19 papers

NM_000110.4

p.S201R

c.603T>A

1 paper

NM_000110.4

p.C202S

c.604T>A

1 paper

NM_000110.4

p.C202S

c.605G>C

1 paper

NM_000110.4

p.S201G

c.601A>G

31 papers

NM_000110.4

p.S201R

c.601A>C

2 papers

NM_000110.4

p.I200T

c.599T>C

2 papers

NM_000110.4

p.A203V

c.608C>T

1 paper

NM_000110.4

p.A203A

c.609T>C

5 papers

NM_000110.4

p.S199N

c.596G>A

2 papers

NM_000110.4

p.S204F

c.611C>T

1 paper

NM_000110.4

p.S199G

c.595A>G

1 paper

NM_000110.4

p.S204S

c.612C>G