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.R482K

c.1445G>A

Surrounding Variants

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.C484W

c.1452T>G

1 paper

NM_000108.5

p.D479A

c.1436A>C

19 papers

NM_000108.5

p.D479V

c.1436A>T

13 papers

NM_000108.5

p.P488L

c.1463C>T

1 paper

NM_000108.5

p.P488_T489Splc

c.1464+1G>A

2 papers

NM_000108.5

p.G474G

c.1422A>C

1 paper

NM_000108.5

p.E472_G474delFs

c.1416_1422del7

3 papers

NM_000108.5

p.G461E

c.1382G>A