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.S556R

c.1668C>G

Surrounding Variants

2 papers

NM_000110.4

p.S556R

c.1668C>A

1 paper

NM_000110.4

p.T557I

c.1670C>T

4 papers

NM_000110.4

p.S556R

c.1666A>C

1 paper

NM_000110.4

p.T555N

c.1664C>A

1 paper

NM_000110.4

p.S558fs

c.1672_1673fs

1 paper

NM_000110.4

p.A554V

c.1661C>T

1 paper

NM_000110.4

p.M559V

c.1675A>G

1 paper

NM_000110.4

p.M559R

c.1676T>G

2 papers

NM_000110.4

p.I560V

c.1678A>G

361 papers

NM_000110.4

p.I560S

c.1679T>G

3 papers

NM_000110.4

p.I560T

c.1679T>C

8 papers

NM_000110.4

p.I560N

c.1679T>A