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.K177R

c.530A>G

Surrounding Variants

1 paper

NM_001931.5

p.F176L

c.528T>A

1 paper

NM_001931.5

p.T180I

c.539C>T

1 paper

NM_001931.5

p.D172N

c.514G>A

1 paper

NM_001931.5

p.D182E

c.546T>A

1 paper

NM_001931.5

p.Q190H

c.570A>T

1 paper

NM_001931.5

p.A191insFs

c.572_573ins4

1 paper

NM_001931.5

p.A199A

c.597C>T

1 paper

NM_001931.5

p.S202S

c.606G>A

1 paper

NM_001931.5

p.T205A

c.613A>G

1 paper

NM_001931.5

p.Q209R

c.626A>G

1 paper

NM_001931.5

p.P217R

c.650C>G

1 paper

NM_001931.5

p.I165_V167del3

c.493_500del9