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.S32T

c.94T>A

Surrounding Variants

1 paper

NM_000110.4

p.A33T

c.97G>A

1 paper

NM_000110.4

p.T31A

c.91A>G

1 paper

NM_000110.4

p.S30insFs

c.89dupC

1 paper

NM_000110.4

p.A33G

c.98C>G

1 paper

NM_000110.4

p.S30Y

c.89C>A

1 paper

NM_000110.4

p.K34N

c.102G>T

1 paper

NM_000110.4

p.K34fs

c.100_101fs

1 paper

NM_000110.4

p.K34N

c.102G>C

1 paper

NM_000110.4

p.C29S

c.86G>C

2 papers

NM_000110.4

p.C29Y

c.86G>A

1 paper

NM_000110.4

p.L18_L28delFs

c.53_84del32

4 papers

NM_000110.4

p.K34delFs

c.100delT