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.T962T

c.2886C>T

Surrounding Variants

3 papers

NM_000110.4

p.T962I

c.2885C>T

3 papers

NM_000110.4

p.C963Y

c.2888G>A

1 paper

NM_000110.4

p.M961I

c.2883G>T

1 paper

NM_000110.4

p.M961I

c.2883G>C

1 paper

NM_000110.4

p.M961I

c.2883G>A

1 paper

NM_000110.4

p.D965N

c.2893G>A

2 papers

NM_000110.4

p.S966F

c.2897C>T

1 paper

NM_000110.4

p.S966Y

c.2897C>A

1 paper

NM_000110.4

p.K958*

c.2872A>T

12 papers

NM_000110.4

p.K958E

c.2872A>G

1 paper

NM_000110.4

p.G967G

c.2901C>A

1 paper

NM_000110.4

p.G957V

c.2870G>T