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

6 papers

NM_000110.4

p.L16V

c.46C>G

Surrounding Variants

1 paper

NM_000110.4

p.L16insFs

c.47_48insG

1 paper

NM_000110.4

p.L16R

c.47T>G

1 paper

NM_000110.4

p.L16P

c.47T>C

1 paper

NM_000110.4

p.I15I

c.45C>T

1 paper

NM_000110.4

p.L16insFs

c.47_48insTA

1 paper

NM_000110.4

p.A17T

c.49G>A

3 papers

NM_000110.4

p.A17A

c.51T>G

1 paper

NM_000110.4

p.A17A

c.51T>C

1 paper

NM_000110.4

p.S14insFs

c.41_42insTG

1 paper

NM_000110.4

p.S14T

c.41G>C

1 paper

NM_000110.4

p.S14fs

c.40_41fs

2 papers

NM_000110.4

p.S14G

c.40A>G