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

Selected Variant

1 paper

NM_000108.5

p.K320N

c.960G>C

Surrounding Variants

1 paper

NM_000108.5

p.K320N

c.960G>T

1 paper

NM_000108.5

p.L322F

c.966G>T

1 paper

NM_000108.5

p.F318Y

c.953T>A

1 paper

NM_000108.5

p.E325V

c.974A>T

2 papers

NM_000108.5

p.R316*

c.946C>T

2 papers

NM_000108.5

p.R315*

c.943C>T

1 paper

NM_000108.5

p.C312_G314delFs

c.934_940del7

1 paper

NM_000108.5

p.E330K

c.988G>A

1 paper

NM_000108.5

p.P333S

c.997C>T

1 paper

NM_000108.5

p.C306G

c.916T>G

1 paper

NM_000108.5

p.I304T

c.911T>C

1 paper

NM_000108.5

p.R342*

c.1024A>T