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.S292A

c.874T>G

Surrounding Variants

5 papers

NM_000108.5

p.S292Splc

c.875+1G>A

1 paper

NM_000108.5

p.S292Splc

c.875+2T>C

1 paper

NM_000108.5

p.D290V

c.869A>T

3 papers

NM_000108.5

p.I289insFs

c.865dupA

1 paper

NM_000108.5

p.I289delFs

c.865delA

1 paper

NM_000108.5

p.D286_I289del4

c.856_866del12

1 paper

NM_000108.5

p.K284_S285delFs

c.852_855del4

1 paper

NM_000108.5

p.T282I

c.845C>T

1 paper

NM_000108.5

p.L274V

c.820T>G

1 paper

NM_000108.5

p.F270V

c.808T>G

2 papers

NM_000108.5

p.G269E

c.806G>A

1 paper

NM_000108.5

p.Q268R

c.803A>G