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

2 papers

NM_000110.4

p.N635D

c.1903A>G

Surrounding Variants

9 papers

NM_000110.4

p.N635N

c.1905C>T

12 papers

NM_000110.4

p.N635K

c.1905C>G

8 papers

NM_000110.4

p.N635K

c.1905C>A

1 paper

NM_000110.4

p.D634G

c.1901A>G

3 papers

NM_000110.4

p.N635_I636Splc

c.1905+1G>C

522 papers

NM_000110.4

p.N635_I636Splc

c.1905+1G>A

1 paper

NM_000110.4

p.N635_I636Splc

c.1905+2T>G

8 papers

NM_000110.4

p.P633fs

c.1897_1898fs

52 papers

NM_000110.4

p.P633delFs

c.1898delG

1 paper

NM_000110.4

p.P633L

c.1898C>T

1 paper

NM_000110.4

p.P633S

c.1897C>T

4 papers

NM_000110.4

p.P633fs

c.1897_1898fs