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.H978Q

c.2934C>G

Surrounding Variants

1 paper

NM_000110.4

p.H978Q

c.2934C>A

1 paper

NM_000110.4

p.L979fs

c.2935_2936fs

24 papers

NM_000110.4

p.H978R

c.2933A>G

1 paper

NM_000110.4

p.L979delFs

c.2936delA

1 paper

NM_000110.4

p.T981I

c.2942C>T

1 paper

NM_000110.4

p.I982I

c.2946A>T

14 papers

NM_000110.4

p.D974V

c.2921A>T

1 paper

NM_000110.4

p.D974A

c.2921A>C

1 paper

NM_000110.4

p.D974Y

c.2920G>T

2 papers

NM_000110.4

p.T983I

c.2948C>T

1 paper

NM_000110.4

p.D984N

c.2950G>A

8 papers

NM_000110.4

p.Q972R

c.2915A>G