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

1–12 of 129 variants

6 papers

NM_001931.5

p.V318A

c.953T>C

6 papers

NM_001931.5

p.D451N

c.1351G>A

4 papers

NM_001931.5

p.A43V

c.128C>T

3 papers

NM_001931.5

p.E138*

c.412G>T

3 papers

NM_001931.5

p.F576L

c.1728C>A

2 papers

NM_001931.5

p.E19Q

c.55G>C

2 papers

NM_001931.5

p.R21P

c.62G>C

2 papers

NM_001931.5

p.E112delFs

c.335delA

2 papers

NM_001931.5

p.V157G

c.470T>G

2 papers

NM_001931.5

p.E239K

c.715G>A

2 papers

NM_001931.5

p.G249R

c.745G>A

2 papers

NM_001931.5

p.G249R

c.745G>C