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

Selected Variant

2 papers

NM_001933.5

p.E99fs

c.295_296fs

Surrounding Variants

4 papers

NM_001933.5

p.E99_D100delFs

c.297_298delAG

1 paper

NM_001933.5

p.E99_D100del2

c.295_299del6

1 paper

NM_001933.5

p.V102L

c.304G>C

1 paper

NM_001933.5

p.V102L

c.304G>T

1 paper

NM_001933.5

p.K110E

c.328A>G

1 paper

NM_001933.5

p.K110*

c.328A>T

1 paper

NM_001933.5

p.K110_T111Splc

c.330+14A>G

1 paper

NM_001933.5

p.K110_T111Splc

c.330+19C>T

1 paper

NM_001933.5

p.E90K

c.268G>A

1 paper

NM_001933.5

p.R88G

c.262A>G

1 paper

NM_001933.5

p.G85R

c.253G>A

1 paper

NM_001933.5

p.G85R

c.253G>C