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.A946D

c.2837C>A

Surrounding Variants

1 paper

NM_000110.4

p.A946V

c.2837C>T

1 paper

NM_000110.4

p.A946delFs

c.2836delC

1 paper

NM_000110.4

p.V945A

c.2834T>C

6 papers

NM_000110.4

p.I948T

c.2843T>C

1 paper

NM_000110.4

p.V944A

c.2831T>C

2 papers

NM_000110.4

p.I948N

c.2843T>A

1 paper

NM_000110.4

p.D949Y

c.2845G>T

1 paper

NM_000110.4

p.D949N

c.2845G>A

451 papers

NM_000110.4

p.D949V

c.2846A>T

2 papers

NM_000110.4

p.D949G

c.2846A>G

1 paper

NM_000110.4

p.D949A

c.2846A>C

1 paper

NM_000110.4

p.D949D

c.2847T>C