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.E615A

c.1844A>C

Surrounding Variants

8 papers

NM_000110.4

p.E615D

c.1845G>T

1 paper

NM_000110.4

p.E615D

c.1845G>C

4 papers

NM_000110.4

p.K616Q

c.1846A>C

1 paper

NM_000110.4

p.S614N

c.1841G>A

7 papers

NM_000110.4

p.T617M

c.1850C>T

1 paper

NM_000110.4

p.I613V

c.1837A>G

1 paper

NM_000110.4

p.I613L

c.1837A>C

1 paper

NM_000110.4

p.E611V

c.1832A>T

1 paper

NM_000110.4

p.E611*

c.1831G>T

1 paper

NM_000110.4

p.E611K

c.1831G>A

1 paper

NM_000110.4

p.Y620F

c.1859A>T

1 paper

NM_000110.4

p.Y620C

c.1859A>G