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

3 papers

NM_000110.4

p.E244V

c.731A>T

Surrounding Variants

6 papers

NM_000110.4

p.E244A

c.731A>C

1 paper

NM_000110.4

p.E244*

c.730G>T

5 papers

NM_000110.4

p.I245F

c.733A>T

2 papers

NM_000110.4

p.I245V

c.733A>G

1 paper

NM_000110.4

p.F243S

c.728T>C

1 paper

NM_000110.4

p.E246K

c.736G>A

2 papers

NM_000110.4

p.L247I

c.739C>A

2 papers

NM_000110.4

p.V241E

c.722T>A

1 paper

NM_000110.4

p.M248I

c.744G>T

1 paper

NM_000110.4

p.M248I

c.744G>C

1 paper

NM_000110.4

p.M248I

c.744G>A

1 paper

NM_000110.4

p.D239E

c.717T>G