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

4 papers

NM_000110.4

p.C385_E386delFs

c.1155_1156delCA

Surrounding Variants

62 papers

NM_000110.4

p.E386*

c.1156G>T

1 paper

NM_000110.4

p.C385fs

c.1153_1154fs

3 papers

NM_000110.4

p.C385*

c.1155T>A

1 paper

NM_000110.4

p.F387Y

c.1160T>A

1 paper

NM_000110.4

p.C385fs

c.1153_1154fs

1 paper

NM_000110.4

p.L388V

c.1162C>G

3 papers

NM_000110.4

p.K384E

c.1150A>G

1 paper

NM_000110.4

p.F390S

c.1169T>C

2 papers

NM_000110.4

p.F390F

c.1170C>T

1 paper

NM_000110.4

p.L391P

c.1172T>C

2 papers

NM_000110.4

p.K381R

c.1142A>G

2 papers

NM_000110.4

p.A380A

c.1140T>C