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.Y35delFs

c.105delC

Surrounding Variants

20 papers

NM_000108.5

p.Y35*

c.105C>A

2 papers

NM_000108.5

p.Y35_A36insFs

c.105_106insA

20 papers

NM_000108.5

p.Y35*

c.105C>G

1 paper

NM_000108.5

p.Y35Y

c.105C>T

6 papers

NM_000108.5

p.Y35insFs

c.104_105insA

1 paper

NM_000108.5

p.T34insFs

c.100_101insC

6 papers

NM_000108.5

p.T34A

c.100A>G

1 paper

NM_000108.5

p.D37N

c.109G>A

1 paper

NM_000108.5

p.P39_I40del1

c.116_118delCGA

1 paper

NM_000108.5

p.I40Splc

c.118+1G>T

1 paper

NM_000108.5

p.A29insFs

c.86_87ins4

2 papers

NM_000108.5

p.S28C

c.83C>G