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.F607delFs

c.1820_1821delAA

Surrounding Variants

1 paper

NM_000110.4

p.L608L

c.1822C>T

1 paper

NM_000110.4

p.F607fs

c.1819_1820fs

2 papers

NM_000110.4

p.N609S

c.1826A>G

3 papers

NM_000110.4

p.N609T

c.1826A>C

2 papers

NM_000110.4

p.N609K

c.1827T>G

2 papers

NM_000110.4

p.N609K

c.1827T>A

2 papers

NM_000110.4

p.I610V

c.1828A>G

1 paper

NM_000110.4

p.E611*

c.1831G>T

1 paper

NM_000110.4

p.E611K

c.1831G>A

1 paper

NM_000110.4

p.E611V

c.1832A>T

1 paper

NM_000110.4

p.Q604L

c.1811A>T

1 paper

NM_000110.4

p.Q604E

c.1810C>G