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.G224C

c.670G>T

Surrounding Variants

2 papers

NM_000110.4

p.G224S

c.670G>A

1 paper

NM_000110.4

p.G224A

c.671G>C

1 paper

NM_000110.4

p.G224D

c.671G>A

1 paper

NM_000110.4

p.G224G

c.672T>C

1 paper

NM_000110.4

p.V223I

c.667G>A

1 paper

NM_000110.4

p.Y222C

c.665A>G

1 paper

NM_000110.4

p.L226insFs

c.677_678insA

7 papers

NM_000110.4

p.E221*

c.661G>T

3 papers

NM_000110.4

p.S227N

c.680G>A

1 paper

NM_000110.4

p.Q220H

c.660A>C

1 paper

NM_000110.4

p.S227Splc

c.680+1G>C

2 papers

NM_000110.4

p.S227Splc

c.680+1G>A