Varaico: Literature-Extracted Genetic Variants

DLAT

190 papers

RefSeq Summary

This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. ...

Pfam Domains

Biotin_lipoylaa 92–165UCSCBiotin-requiring enzyme

Biotin_lipoylaa 219–293UCSCBiotin-requiring enzyme

2-oxoacid_dhaa 312–542UCSC2-oxoacid dehydrogenases acyltransferase (catalytic domain)

E3_bindingaa 355–390UCSCe3 binding domain

Gene Aliases

HGNC Name

dihydrolipoamide S-acetyltransferase

HGNC Previous Symbol

DLTA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001931.5

p.P325_V326Splc

c.975+7A>G

Surrounding Variants

2 papers

NM_001931.5

p.P325P

c.975G>A

1 paper

NM_001931.5

p.P325P

c.975G>C

1 paper

NM_001931.5

p.V318E

c.953T>A

6 papers

NM_001931.5

p.V318A

c.953T>C

1 paper

NM_001931.5

p.D313_L314ins0

c.937_942dup6

1 paper

NM_001931.5

p.T312_D313delFs

c.934_937del4

1 paper

NM_001931.5

p.T312_L314delFs

c.934_940del7

1 paper

NM_001931.5

p.E310K

c.928G>A

1 paper

NM_001931.5

p.I300V

c.898A>G

1 paper

NM_001931.5

p.P289S

c.865C>T

1 paper

NM_001931.5

p.L286insFs

c.858dupA

1 paper

NM_001931.5

p.P285S

c.853C>T