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.V55I

c.163G>A

Surrounding Variants

1 paper

NM_000108.5

p.Y54C

c.161A>G

1 paper

NM_000108.5

p.A56G

c.167C>G

4 papers

NM_000108.5

p.G53E

c.158G>A

1 paper

NM_000108.5

p.A57delFs

c.169delG

1 paper

NM_000108.5

p.G50S

c.148G>A

1 paper

NM_000108.5

p.A61P

c.181G>C

7 papers

NM_000108.5

p.I47T

c.140T>C

1 paper

NM_000108.5

p.G64D

c.191G>A

1 paper

NM_000108.5

p.F65I

c.193T>A

1 paper

NM_000108.5

p.F65S

c.194T>C

2 papers

NM_000108.5

p.V44L

c.130G>C

2 papers

NM_000108.5

p.K66_T67Splc

c.198+2T>A