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

2 papers

NM_000108.5

p.G249R

c.745G>C

Surrounding Variants

1 paper

NM_000108.5

p.G249C

c.745G>T

1 paper

NM_000108.5

p.H247Y

c.739C>T

1 paper

NM_000108.5

p.V251L

c.751G>C

1 paper

NM_000108.5

p.I253F

c.757A>T

1 paper

NM_000108.5

p.F244L

c.730T>C

1 paper

NM_000108.5

p.E243_F244insFs

c.729_730insTT

1 paper

NM_000108.5

p.E243V

c.728A>T

1 paper

NM_000108.5

p.E256V

c.767A>T

1 paper

NM_000108.5

p.A237fs

c.709_710fs

1 paper

NM_000108.5

p.F261L

c.781T>C

1 paper

NM_000108.5

p.F261V

c.781T>G

1 paper

NM_000108.5

p.F261C

c.782T>G