Varaico: Literature-Extracted Genetic Variants

DLST

100 papers

RefSeq Summary

This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex...

Pfam Domains

Biotin_lipoylaa 71–143UCSCBiotin-requiring enzyme

2-oxoacid_dhaa 219–451UCSC2-oxoacid dehydrogenases acyltransferase (catalytic domain)

Gene Aliases

HGNC Name

dihydrolipoamide S-succinyltransferase

HGNC Previous Symbol

DLTS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 79 variants

7 papers

NM_001933.5

p.G374E

c.1121G>A

5 papers

NM_001933.5

p.Y422C

c.1265A>G

4 papers

NM_001933.5

p.E99_D100delFs

c.297_298delAG

4 papers

NM_001933.5

p.R231Q

c.692G>A

4 papers

NM_001933.5

p.D304N

c.910G>A

3 papers

NM_001933.5

p.P204L

c.611C>T

2 papers

NM_001933.5

p.E99fs

c.295_296fs

2 papers

NM_001933.5

p.G216R

c.646G>C

2 papers

NM_001933.5

p.T250A

c.748A>G

2 papers

NM_001933.5

p.V297_V298del2

c.889_893del6

2 papers

NM_001933.5

p.P384L

c.1151C>T

2 papers

NM_001933.5

p.R437H

c.1310G>A