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.S624T

c.1871G>C

Surrounding Variants

1 paper

NM_000110.4

p.T626P

c.1876A>C

2 papers

NM_000110.4

p.C622Y

c.1865G>A

5 papers

NM_000110.4

p.W621C

c.1863G>T

5 papers

NM_000110.4

p.W621C

c.1863G>C

5 papers

NM_000110.4

p.W621*

c.1863G>A

5 papers

NM_000110.4

p.W621*

c.1862G>A

1 paper

NM_000110.4

p.W621R

c.1861T>C

1 paper

NM_000110.4

p.W621R

c.1861T>A

1 paper

NM_000110.4

p.E627D

c.1881A>T

1 paper

NM_000110.4

p.E627D

c.1881A>C

1 paper

NM_000110.4

p.Y620F

c.1859A>T

1 paper

NM_000110.4

p.Y620C

c.1859A>G