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.L442Q

c.1325T>A

Surrounding Variants

1 paper

NM_000110.4

p.D444H

c.1330G>C

1 paper

NM_000110.4

p.G439fs

c.1315_1316fs

1 paper

NM_000110.4

p.P445L

c.1334C>T

1 paper

NM_000110.4

p.F438fs

c.1312_1313fs

17 papers

NM_000110.4

p.F438L

c.1314T>G

7 papers

NM_000110.4

p.F438L

c.1314T>A

2 papers

NM_000110.4

p.K446E

c.1336A>G

1 paper

NM_000110.4

p.K446T

c.1337A>C

1 paper

NM_000110.4

p.F438V

c.1312T>G

7 papers

NM_000110.4

p.F438L

c.1312T>C

7 papers

NM_000110.4

p.V447Splc

c.1339+1G>T

1 paper

NM_000110.4

p.V447Splc

c.1339+1G>A