Varaico: Literature-Extracted Genetic Variants

DLD

345 papers

RefSeq Summary

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechani...

Pfam Domains

Pyr_redox_2aa 42–347UCSCPyridine nucleotide-disulphide oxidoreductase

Pyr_redox_dimaa 366–475UCSCPyridine nucleotide-disulphide oxidoreductase, dimerisation domain

Gene Aliases

HGNC Name

dihydrolipoamide dehydrogenase

HGNC Previous Symbol

GCSL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 239 variants

56 papers

NM_000108.5

p.G229C

c.685G>T

26 papers

NM_000108.5

p.G77R

c.229G>C

25 papers

NM_000108.5

p.E375K

c.1123G>A

20 papers

NM_000108.5

p.Y35*

c.105C>A

20 papers

NM_000108.5

p.Y35*

c.105C>G

19 papers

NM_000108.5

p.D479V

c.1436A>T

13 papers

NM_000108.5

p.K72E

c.214A>G

13 papers

NM_000108.5

p.P488L

c.1463C>T

11 papers

NM_000108.5

p.M361V

c.1081A>G

10 papers

NM_000108.5

p.R482G

c.1444A>G

8 papers

NM_000108.5

p.I393T

c.1178T>C

8 papers

NM_000108.5

p.R495G

c.1483A>G