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.F163L

c.489C>G

Surrounding Variants

1 paper

NM_000110.4

p.F163L

c.489C>A

1 paper

NM_000110.4

p.F163L

c.487T>C

1 paper

NM_000110.4

p.K164T

c.491A>C

1 paper

NM_000110.4

p.V162V

c.486A>T

1 paper

NM_000110.4

p.A165E

c.494C>A

202 papers

NM_000110.4

p.M166V

c.496A>G

1 paper

NM_000110.4

p.M166L

c.496A>C

1 paper

NM_000110.4

p.F163_A165del3

c.487_494del9

1 paper

NM_000110.4

p.M166T

c.497T>C

4 papers

NM_000110.4

p.M166I

c.498G>T

4 papers

NM_000110.4

p.M166I

c.498G>C

6 papers

NM_000110.4

p.M166I

c.498G>A