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.L271*

c.812T>A

Surrounding Variants

20 papers

NM_000110.4

p.L271delFs

c.812delA

1 paper

NM_000110.4

p.S269S

c.807C>T

1 paper

NM_000110.4

p.L268H

c.803T>A

1 paper

NM_000110.4

p.L268V

c.802C>G

1 paper

NM_000110.4

p.G275C

c.823G>T

1 paper

NM_000110.4

p.K274delFs

c.822delT

1 paper

NM_000110.4

p.T267I

c.800C>T

1 paper

NM_000110.4

p.G275G

c.825C>G

1 paper

NM_000110.4

p.Y276Y

c.828C>T

1 paper

NM_000110.4

p.E265*

c.793G>T

1 paper

NM_000110.4

p.E265K

c.793G>A

3 papers

NM_000110.4

p.A278T

c.832G>A