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.A237fs

c.709_710fs

Surrounding Variants

1 paper

NM_000108.5

p.L235delFs

c.705delT

1 paper

NM_000108.5

p.L235delFs

c.704_705delTT

1 paper

NM_000108.5

p.L235fs

c.703_704fs

3 papers

NM_000108.5

p.R234G

c.700A>G

1 paper

NM_000108.5

p.E243V

c.728A>T

1 paper

NM_000108.5

p.E243_F244insFs

c.729_730insTT

1 paper

NM_000108.5

p.F244L

c.730T>C

1 paper

NM_000108.5

p.G229D

c.686G>A

1 paper

NM_000108.5

p.G229V

c.686G>T

56 papers

NM_000108.5

p.G229C

c.685G>T

1 paper

NM_000108.5

p.L228_G229Splc

c.685-1G>C

1 paper

NM_000108.5

p.L228_G229Splc

c.685-1G>T