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.C996F

c.2987G>T

Surrounding Variants

1 paper

NM_000110.4

p.P997L

c.2990C>T

1 paper

NM_000110.4

p.P997R

c.2990C>G

52 papers

NM_000110.4

p.V995F

c.2983G>T

2 papers

NM_000110.4

p.V995I

c.2983G>A

2 papers

NM_000110.4

p.S994T

c.2981G>C

8 papers

NM_000110.4

p.L993R

c.2978T>G

6 papers

NM_000110.4

p.L993F

c.2977C>T

3 papers

NM_000110.4

p.D1000N

c.2998G>A

1 paper

NM_000110.4

p.C992F

c.2975G>T

1 paper

NM_000110.4

p.C992fs

c.2974_2975fs

1 paper

NM_000110.4

p.C1001G

c.3001T>G

2 papers

NM_000110.4

p.T990I

c.2969C>T