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.G366fs

c.1096_1097fs

Surrounding Variants

1 paper

NM_000110.4

p.K365delFs

c.1095delT

2 papers

NM_000110.4

p.G366V

c.1097G>T

8 papers

NM_000110.4

p.G366A

c.1097G>C

1 paper

NM_000110.4

p.G366G

c.1098C>T

1 paper

NM_000110.4

p.R364S

c.1092A>T

1 paper

NM_000110.4

p.R364S

c.1092A>C

1 paper

NM_000110.4

p.R364K

c.1091G>A

1 paper

NM_000110.4

p.F363F

c.1089C>T

1 paper

NM_000110.4

p.F363Y

c.1088T>A

7 papers

NM_000110.4

p.V362I

c.1084G>A

20 papers

NM_000110.4

p.I370V

c.1108A>G

1 paper

NM_000110.4

p.I370fs

c.1108_1109fs