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.V1017A

c.3050T>C

Surrounding Variants

6 papers

NM_000110.4

p.V1017I

c.3049G>A

1 paper

NM_000110.4

p.R1015*

c.3043A>T

1 paper

NM_000110.4

p.L1019L

c.3057A>G

1 paper

NM_000110.4

p.K1014delFs

c.3040_3041delTT

1 paper

NM_000110.4

p.K1014fs

c.3040_3041fs

4 papers

NM_000110.4

p.V1021L

c.3061G>T

7 papers

NM_000110.4

p.V1021L

c.3061G>C

1 paper

NM_000110.4

p.V1021A

c.3062T>C

1 paper

NM_000110.4

p.E1012V

c.3035A>T

3 papers

NM_000110.4

p.E1012*

c.3034G>T

13 papers

NM_000110.4

p.P1023S

c.3067C>T

20 papers

NM_000110.4

p.P1023T

c.3067C>A