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.M182I

c.546G>C

Surrounding Variants

1 paper

NM_000110.4

p.M182I

c.546G>T

1 paper

NM_000110.4

p.M182I

c.546G>A

1 paper

NM_000110.4

p.S183insFs

c.547_548insA

1 paper

NM_000110.4

p.M182insFs

c.544dupA

10 papers

NM_000110.4

p.M182K

c.545T>A

1 paper

NM_000110.4

p.S183fs

c.547_548fs

3 papers

NM_000110.4

p.M182fs

c.544_545fs

1 paper

NM_000110.4

p.S183Y

c.548C>A

1 paper

NM_000110.4

p.K181K

c.543A>G

1 paper

NM_000110.4

p.E184K

c.550G>A

1 paper

NM_000110.4

p.K181T

c.542A>C

11 papers

NM_000110.4

p.E184V

c.551A>T