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.I393T

c.1178T>C

Surrounding Variants

1 paper

NM_000108.5

p.V389fs

c.1165_1166fs

1 paper

NM_000108.5

p.P397_E398insFs

c.1191_1192insG

1 paper

NM_000108.5

p.E398K

c.1192G>A

1 paper

NM_000108.5

p.N387H

c.1159A>C

1 paper

NM_000108.5

p.W401L

c.1202G>T

1 paper

NM_000108.5

p.G380_C388delFs

c.1140_1162del23

25 papers

NM_000108.5

p.E375K

c.1123G>A

1 paper

NM_000108.5

p.D368insFs

c.1102_1103insC

1 paper

NM_000108.5

p.H364_K365insFs

c.1092_1093insG

11 papers

NM_000108.5

p.M361V

c.1081A>G

5 papers

NM_000108.5

p.I353T

c.1058T>C

1 paper

NM_000108.5

p.E412_G413Splc

c.1237-132C>A