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.G23D

c.68G>A

Surrounding Variants

1 paper

NM_000108.5

p.G23delFs

c.67delG

1 paper

NM_000108.5

p.Q25P

c.74A>C

1 paper

NM_000108.5

p.L27fs

c.79_80fs

1 paper

NM_000108.5

p.L27delFs

c.80delT

1 paper

NM_000108.5

p.N18N

c.54T>C

1 paper

NM_000108.5

p.S28P

c.82T>C

2 papers

NM_000108.5

p.S28C

c.83C>G

2 papers

NM_000108.5

p.N18D

c.52A>G

1 paper

NM_000108.5

p.A29insFs

c.86_87ins4

1 paper

NM_000108.5

p.F17Y

c.50T>A

1 paper

NM_000108.5

p.F17fs

c.49_50fs

1 paper

NM_000108.5

p.H16R

c.47A>G