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

4 papers

NM_001933.5

p.R231Q

c.692G>A

Surrounding Variants

1 paper

NM_001933.5

p.K226E

c.676A>G

1 paper

NM_001933.5

p.R237C

c.709C>T

1 paper

NM_001933.5

p.K239*

c.715A>T

1 paper

NM_001933.5

p.A241_Q242del1

c.723_725delCCA

1 paper

NM_001933.5

p.A246E

c.737C>A

2 papers

NM_001933.5

p.T250A

c.748A>G

1 paper

NM_001933.5

p.R224_E225Splc

c.672+9C>G

1 paper

NM_001933.5

p.R220L

c.659G>T

1 paper

NM_001933.5

p.G216V

c.647G>T

2 papers

NM_001933.5

p.G216R

c.646G>C

1 paper

NM_001933.5

p.A211V

c.632C>T

3 papers

NM_001933.5

p.P204L

c.611C>T