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.R916fs

c.2746_2747fs

Surrounding Variants

1 paper

NM_000110.4

p.R916delFs

c.2746delT

1 paper

NM_000110.4

p.R916fs

c.2746_2747fs

1 paper

NM_000110.4

p.R916delFs

c.2748delC

1 paper

NM_000110.4

p.P919S

c.2755C>T

1 paper

NM_000110.4

p.I913V

c.2737A>G

1 paper

NM_000110.4

p.P919fs

c.2755_2756fs

1 paper

NM_000110.4

p.F912Y

c.2735T>A

1 paper

NM_000110.4

p.C911C

c.2733T>C

1 paper

NM_000110.4

p.I921N

c.2762T>A

3 papers

NM_000110.4

p.K922_D923Splc

c.2766+1G>A

1 paper

NM_000110.4

p.K908*

c.2722A>T

1 paper

NM_000110.4

p.P906S

c.2716C>T