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.P329A

c.985C>G

Surrounding Variants

1 paper

NM_000110.4

p.P329P

c.987A>G

2 papers

NM_000110.4

p.S330L

c.989C>T

1 paper

NM_000110.4

p.P327S

c.979C>T

2 papers

NM_000110.4

p.S326F

c.977C>T

1 paper

NM_000110.4

p.S326C

c.977C>G

1 paper

NM_000110.4

p.R332W

c.994C>T

1 paper

NM_000110.4

p.R332L

c.995G>T

1 paper

NM_000110.4

p.H325H

c.975C>T

1 paper

NM_000110.4

p.G333*

c.997G>T

1 paper

NM_000110.4

p.A323G

c.968C>G

1 paper

NM_000110.4

p.A323D

c.968C>A

50 papers

NM_000110.4

p.V335L

c.1003G>T