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.K927delFs

c.2781delT

Surrounding Variants

1 paper

NM_000110.4

p.A928fs

c.2782_2783fs

4 papers

NM_000110.4

p.G926V

c.2777G>T

1 paper

NM_000110.4

p.G926E

c.2777G>A

1 paper

NM_000110.4

p.V924I

c.2770G>A

1 paper

NM_000110.4

p.D923H

c.2767G>C

2 papers

NM_000110.4

p.K922_D923Splc

c.2767-1G>A

4 papers

NM_000110.4

p.G936C

c.2806G>T

1 paper

NM_000110.4

p.E937K

c.2809G>A

2 papers

NM_000110.4

p.S939N

c.2816G>A

1 paper

NM_000110.4

p.V941G

c.2822T>G

2 papers

NM_000110.4

p.V941A

c.2822T>C

1 paper

NM_000110.4

p.V944A

c.2831T>C