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

1–12 of 1592 variants

522 papers

NM_000110.4

p.N635_I636Splc

c.1905+1G>A

451 papers

NM_000110.4

p.D949V

c.2846A>T

361 papers

NM_000110.4

p.I560S

c.1679T>G

269 papers

NM_000110.4

p.E412E

c.1236G>A

233 papers

NM_000110.4

p.C29R

c.85T>C

202 papers

NM_000110.4

p.M166V

c.496A>G

196 papers

NM_000110.4

p.I543V

c.1627A>G

184 papers

NM_000110.4

p.S534N

c.1601G>A

166 papers

NM_000110.4

p.V732I

c.2194G>A

159 papers

NM_000110.4

p.E376_M377Splc

c.1129-5923C>G

117 papers

NM_000110.4

p.Y186C

c.557A>G

89 papers

NM_000110.4

p.F632F

c.1896T>C