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

8 papers

NM_000108.5

p.R495G

c.1483A>G

Surrounding Variants

1 paper

NM_000108.5

p.A501V

c.1502C>T

1 paper

NM_000108.5

p.I507del1

c.1519_1520delATC

1 paper

NM_000108.5

p.F509Y

c.1526T>A

1 paper

NM_000108.5

p.P488_T489Splc

c.1464+1G>A

13 papers

NM_000108.5

p.P488L

c.1463C>T

1 paper

NM_000108.5

p.C484W

c.1452T>G

1 paper

NM_000108.5

p.R482K

c.1445G>A

10 papers

NM_000108.5

p.R482G

c.1444A>G

1 paper

NM_000108.5

p.A481_R482insFs

c.1443_1444insG

6 papers

NM_000108.5

p.I480M

c.1440A>G

1 paper

NM_000108.5

p.I480T

c.1439T>C

1 paper

NM_000108.5

p.D479A

c.1436A>C