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

2 papers

NM_000110.4

p.V732F

c.2194G>T

Surrounding Variants

2 papers

NM_000110.4

p.V732fs

c.2194_2195fs

166 papers

NM_000110.4

p.V732I

c.2194G>A

13 papers

NM_000110.4

p.V732G

c.2195T>G

1 paper

NM_000110.4

p.V732insFs

c.2195_2196dupTT

1 paper

NM_000110.4

p.T733fs

c.2197_2198fs

2 papers

NM_000110.4

p.T733insFs

c.2197_2198insA

1 paper

NM_000110.4

p.N730S

c.2189A>G

7 papers

NM_000110.4

p.A729V

c.2186C>T

1 paper

NM_000110.4

p.A729T

c.2185G>A

1 paper

NM_000110.4

p.T737fs

c.2209_2210fs

1 paper

NM_000110.4

p.G727Splc

c.2180-1G>T

3 papers

NM_000110.4

p.T737I

c.2210C>T