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.G413A

c.1238G>C

Surrounding Variants

1 paper

NM_000108.5

p.A424_S427del4

c.1270_1280del12

1 paper

NM_000108.5

p.S427N

c.1280G>A

1 paper

NM_000108.5

p.K430E

c.1288A>G

1 paper

NM_000108.5

p.D434G

c.1301A>G

1 paper

NM_000108.5

p.I441T

c.1322T>C

1 paper

NM_000108.5

p.Q444_S446del3

c.1330_1337del9

1 paper

NM_000108.5

p.D448_R449delFs

c.1344_1347del4

1 paper

NM_000108.5

p.D448fs

c.1342_1343fs

1 paper

NM_000108.5

p.A453G

c.1358C>G

1 paper

NM_000108.5

p.E412_G413Splc

c.1237-132C>A

1 paper

NM_000108.5

p.P458_G459Splc

c.1374+5G>A

1 paper

NM_000108.5

p.W401L

c.1202G>T