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

7 papers

NM_000110.4

p.K875Q

c.2623A>C

Surrounding Variants

1 paper

NM_000110.4

p.K874_K875Splc

c.2623-1G>A

1 paper

NM_000110.4

p.K875R

c.2624A>G

1 paper

NM_000110.4

p.S878G

c.2632A>G

2 papers

NM_000110.4

p.S878R

c.2632A>C

2 papers

NM_000110.4

p.S878R

c.2634T>G

2 papers

NM_000110.4

p.S878R

c.2634T>A

10 papers

NM_000110.4

p.G880V

c.2639G>T

1 paper

NM_000110.4

p.Y882C

c.2645A>G

1 paper

NM_000110.4

p.Q885*

c.2653C>T

14 papers

NM_000110.4

p.R886C

c.2656C>T

60 papers

NM_000110.4

p.R886H

c.2657G>A

1 paper

NM_000110.4

p.R886R

c.2658C>T