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

1 paper

NM_001933.5

p.D423del1

c.1267_1268delGAT

Surrounding Variants

5 papers

NM_001933.5

p.Y422C

c.1265A>G

1 paper

NM_001933.5

p.D423A

c.1268A>C

1 paper

NM_001933.5

p.D423G

c.1268A>G

1 paper

NM_001933.5

p.D423E

c.1269T>A

1 paper

NM_001933.5

p.D423E

c.1269T>G

1 paper

NM_001933.5

p.R413Q

c.1238G>A

2 papers

NM_001933.5

p.R437H

c.1310G>A

1 paper

NM_001933.5

p.I393V

c.1177A>G

1 paper

NM_001933.5

p.P389L

c.1166C>T

2 papers

NM_001933.5

p.P384L

c.1151C>T

1 paper

NM_001933.5

p.P384T

c.1150C>A

1 paper

NM_001933.5

p.T383A

c.1147A>G