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

2 papers

NM_001931.5

p.E112delFs

c.335delA

Surrounding Variants

1 paper

NM_001931.5

p.E112Q

c.334G>C

1 paper

NM_001931.5

p.E112fs

c.334_335fs

1 paper

NM_001931.5

p.R110C

c.328C>T

1 paper

NM_001931.5

p.E115fs

c.343_344fs

1 paper

NM_001931.5

p.A109fs

c.325_326fs

1 paper

NM_001931.5

p.A109_E112delFs

c.325_334del10

1 paper

NM_001931.5

p.K118I

c.353A>T

1 paper

NM_001931.5

p.E121del1

c.361_362delGAA

1 paper

NM_001931.5

p.P101L

c.302C>T

1 paper

NM_001931.5

p.G122G

c.366T>G

1 paper

NM_001931.5

p.P101S

c.301C>T

1 paper

NM_001931.5

p.S100A

c.298T>G