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.A513S

c.1537G>T

Surrounding Variants

2 papers

NM_000110.4

p.A513T

c.1537G>A

3 papers

NM_000110.4

p.A513V

c.1538C>T

12 papers

NM_000110.4

p.V515I

c.1543G>A

1 paper

NM_000110.4

p.S509*

c.1526C>G

1 paper

NM_000110.4

p.S509*

c.1526C>A

1 paper

NM_000110.4

p.Q508_S509Splc

c.1525-1G>T

3 papers

NM_000110.4

p.Q508_S509Splc

c.1525-1G>A

4 papers

NM_000110.4

p.P519S

c.1555C>T

1 paper

NM_000110.4

p.E520*

c.1558G>T

4 papers

NM_000110.4

p.Q508_S509Splc

c.1525-9A>G

4 papers

NM_000110.4

p.Q508_S509Splc

c.1525-11G>A

1 paper

NM_000110.4

p.P522_L523ins7

c.1564_1568ins21