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.M1004delFs

c.3010delT

Surrounding Variants

1 paper

NM_000110.4

p.M1004fs

c.3010_3011fs

2 papers

NM_000110.4

p.M1004V

c.3010A>G

1 paper

NM_000110.4

p.C1001G

c.3001T>G

3 papers

NM_000110.4

p.D1000N

c.2998G>A

1 paper

NM_000110.4

p.T1009A

c.3025A>G

2 papers

NM_000110.4

p.T1009P

c.3025A>C

1 paper

NM_000110.4

p.P1010S

c.3028C>T

2 papers

NM_000110.4

p.P1010L

c.3029C>T

1 paper

NM_000110.4

p.P1010H

c.3029C>A

1 paper

NM_000110.4

p.Y1011fs

c.3031_3032fs

1 paper

NM_000110.4

p.P997L

c.2990C>T

1 paper

NM_000110.4

p.P997R

c.2990C>G