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.K580_D581Splc

c.1740+2T>C

Surrounding Variants

1 paper

NM_000110.4

p.K580_D581Splc

c.1740+1G>T

1 paper

NM_000110.4

p.K580insFs

c.1738_1739dupAA

5 papers

NM_000110.4

p.D579D

c.1737T>C

1 paper

NM_000110.4

p.D579N

c.1735G>A

1 paper

NM_000110.4

p.S577P

c.1729T>C

1 paper

NM_000110.4

p.F576fs

c.1726_1727fs

1 paper

NM_000110.4

p.F576I

c.1726T>A

1 paper

NM_000110.4

p.T575I

c.1724C>T

1 paper

NM_000110.4

p.K574E

c.1720A>G

1 paper

NM_000110.4

p.T573I

c.1718C>T

1 paper

NM_000110.4

p.T573N

c.1718C>A

1 paper

NM_000110.4

p.L572L

c.1716C>T