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.L544*

c.1631T>G

Surrounding Variants

1 paper

NM_001931.5

p.L544*

c.1631T>A

1 paper

NM_001931.5

p.T546A

c.1636A>G

1 paper

NM_001931.5

p.V515A

c.1544T>C

1 paper

NM_001931.5

p.Q505H

c.1515A>C

1 paper

NM_001931.5

p.F563delFs

c.1689delT

1 paper

NM_001931.5

p.F563fs

c.1687_1688fs

1 paper

NM_001931.5

p.G572_I573ins4

c.1714_1718ins12

2 papers

NM_001931.5

p.F576L

c.1726T>C

3 papers

NM_001931.5

p.F576L

c.1728C>A

2 papers

NM_001931.5

p.F576L

c.1728C>G

1 paper

NM_001931.5

p.P582L

c.1745C>T

1 paper

NM_001931.5

p.L588L

c.1764G>A