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.Q268R

c.803A>G

Surrounding Variants

1 paper

NM_000108.5

p.Q268delFs

c.803_804delAG

1 paper

NM_000108.5

p.Q268fs

c.802_803fs

2 papers

NM_000108.5

p.G269E

c.806G>A

1 paper

NM_000108.5

p.F270V

c.808T>G

5 papers

NM_000108.5

p.R263H

c.788G>A

1 paper

NM_000108.5

p.R263S

c.787C>A

2 papers

NM_000108.5

p.R263G

c.787C>G

1 paper

NM_000108.5

p.L274V

c.820T>G

1 paper

NM_000108.5

p.F261L

c.783T>A

1 paper

NM_000108.5

p.F261L

c.783T>G

1 paper

NM_000108.5

p.F261C

c.782T>G

1 paper

NM_000108.5

p.F261L

c.781T>C