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.I256M

c.768T>G

Surrounding Variants

1 paper

NM_000110.4

p.I256V

c.766A>G

1 paper

NM_000110.4

p.C257*

c.771C>A

1 paper

NM_000110.4

p.I255T

c.764T>C

3 papers

NM_000110.4

p.G258S

c.772G>A

54 papers

NM_000110.4

p.K259E

c.775A>G

3 papers

NM_000110.4

p.K254_I255Splc

c.763-2A>G

2 papers

NM_000110.4

p.S260R

c.778A>C

1 paper

NM_000110.4

p.S260S

c.780C>T

2 papers

NM_000110.4

p.S260R

c.780C>G

2 papers

NM_000110.4

p.S260R

c.780C>A

1 paper

NM_000110.4

p.E265*

c.793G>T

1 paper

NM_000110.4

p.E265K

c.793G>A