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.L73V

c.217T>G

Surrounding Variants

1 paper

NM_001931.5

p.R72P

c.215G>C

1 paper

NM_001931.5

p.P69P

c.207G>C

1 paper

NM_001931.5

p.G82A

c.245G>C

1 paper

NM_001931.5

p.R83C

c.247C>T

1 paper

NM_001931.5

p.R83insFs

c.249dupC

1 paper

NM_001931.5

p.G60D

c.179G>A

1 paper

NM_001931.5

p.G60S

c.178G>A

1 paper

NM_001931.5

p.A57delFs

c.169delG

1 paper

NM_001931.5

p.V55_R56del1

c.165_167delCCG

1 paper

NM_001931.5

p.V48E

c.143T>A

1 paper

NM_001931.5

p.V48del1

c.142_143delGTG

4 papers

NM_001931.5

p.A43V

c.128C>T