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

24 papers

NM_000110.4

p.H25R

c.74A>G

Surrounding Variants

1 paper

NM_000110.4

p.H25_A26insFs

c.75_76insT

2 papers

NM_000110.4

p.A26T

c.76G>A

1 paper

NM_000110.4

p.A26V

c.77C>T

1 paper

NM_000110.4

p.T24S

c.70A>T

2 papers

NM_000110.4

p.A26A

c.78A>G

5 papers

NM_000110.4

p.T27P

c.79A>C

1 paper

NM_000110.4

p.T27S

c.80C>G

1 paper

NM_000110.4

p.Q23R

c.68A>G

1 paper

NM_000110.4

p.T27T

c.81T>A

1 paper

NM_000110.4

p.L28insFs

c.83dupT

1 paper

NM_000110.4

p.L28_C29insFs

c.84_85insA

3 papers

NM_000110.4

p.C29G

c.85T>G