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.I590T

c.1769T>C

Surrounding Variants

1 paper

NM_000110.4

p.I591fs

c.1771_1772fs

1 paper

NM_000110.4

p.I590insFs

c.1769_1770dupTC

1 paper

NM_000110.4

p.R589fs

c.1765_1766fs

2 papers

NM_000110.4

p.R589fs

c.1765_1766fs

3 papers

NM_000110.4

p.P588delFs

c.1764delG

47 papers

NM_000110.4

p.R592W

c.1774C>T

1 paper

NM_000110.4

p.P588fs

c.1762_1763fs

14 papers

NM_000110.4

p.R592Q

c.1775G>A

1 paper

NM_000110.4

p.P588R

c.1763C>G

1 paper

NM_000110.4

p.P588S

c.1762C>T

4 papers

NM_000110.4

p.G593R

c.1777G>C

8 papers

NM_000110.4

p.G593R

c.1777G>A