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

3 papers

NM_001931.5

p.E138*

c.412G>T

Surrounding Variants

1 paper

NM_001931.5

p.G136A

c.407G>C

1 paper

NM_001931.5

p.E142_Y144del3

c.424_431del9

1 paper

NM_001931.5

p.V128A

c.383T>C

1 paper

NM_001931.5

p.E129_T130del2

c.385_389del6

1 paper

NM_001931.5

p.I148M

c.444A>G

2 papers

NM_001931.5

p.V157G

c.470T>G

1 paper

NM_001931.5

p.I165_V167del3

c.493_500del9

1 paper

NM_001931.5

p.D172N

c.514G>A

1 paper

NM_001931.5

p.F176L

c.528T>A

1 paper

NM_001931.5

p.K177R

c.530A>G

1 paper

NM_001931.5

p.T180I

c.539C>T

1 paper

NM_001931.5

p.D182E

c.546T>A