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.V68insFs

c.203_204insC

Surrounding Variants

1 paper

NM_000108.5

p.C69S

c.206G>C

1 paper

NM_000108.5

p.E71D

c.213G>T

13 papers

NM_000108.5

p.K72E

c.214A>G

26 papers

NM_000108.5

p.G77R

c.229G>C

2 papers

NM_000108.5

p.G77G

c.231T>A

2 papers

NM_000108.5

p.P87S

c.259C>T

1 paper

NM_000108.5

p.K89R

c.266A>G

1 paper

NM_000108.5

p.K66_T67Splc

c.199-108T>C

2 papers

NM_000108.5

p.K66_T67Splc

c.198+2T>A

1 paper

NM_000108.5

p.K66_T67Splc

c.198+2T>C

1 paper

NM_000108.5

p.F65S

c.194T>C

1 paper

NM_000108.5

p.F65I

c.193T>A