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.P237R

c.710C>G

Surrounding Variants

4 papers

NM_000110.4

p.P237L

c.710C>T

1 paper

NM_000110.4

p.L236_P237Fs

c.708_709delinsTFs

1 paper

NM_000110.4

p.R235L

c.704G>T

9 papers

NM_000110.4

p.R235Q

c.704G>A

1 paper

NM_000110.4

p.D239E

c.717T>G

1 paper

NM_000110.4

p.D239E

c.717T>A

72 papers

NM_000110.4

p.R235W

c.703C>T

2 papers

NM_000110.4

p.V241E

c.722T>A

1 paper

NM_000110.4

p.Q233P

c.698A>C

1 paper

NM_000110.4

p.Q233K

c.697C>A

1 paper

NM_000110.4

p.P232L

c.695C>T

1 paper

NM_000110.4

p.F243S

c.728T>C