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.K399N

c.1197A>T

Surrounding Variants

1 paper

NM_000110.4

p.K399R

c.1196A>G

1 paper

NM_000110.4

p.G401W

c.1201G>T

3 papers

NM_000110.4

p.G401R

c.1201G>C

3 papers

NM_000110.4

p.G401R

c.1201G>A

1 paper

NM_000110.4

p.R402fs

c.1204_1205fs

1 paper

NM_000110.4

p.R402delFs

c.1204delT

1 paper

NM_000110.4

p.V396V

c.1188T>G

1 paper

NM_000110.4

p.V396I

c.1186G>A

8 papers

NM_000110.4

p.R394L

c.1181G>T

2 papers

NM_000110.4

p.R394Q

c.1181G>A

9 papers

NM_000110.4

p.R394W

c.1180C>T

2 papers

NM_000110.4

p.A405V

c.1214C>T