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.V28L

c.82G>T

Surrounding Variants

1 paper

NM_001931.5

p.V28L

c.82G>C

1 paper

NM_001931.5

p.P29insFs

c.85dupC

2 papers

NM_001931.5

p.R21P

c.62G>C

2 papers

NM_001931.5

p.E19Q

c.55G>C

1 paper

NM_001931.5

p.G17R

c.49G>A

1 paper

NM_001931.5

p.A16T

c.46G>A

1 paper

NM_001931.5

p.V12V

c.36A>T

4 papers

NM_001931.5

p.A43V

c.128C>T

1 paper

NM_001931.5

p.Q10L

c.29A>T

1 paper

NM_001931.5

p.V48del1

c.142_143delGTG

1 paper

NM_001931.5

p.V48E

c.143T>A

1 paper

NM_001931.5

p.V55_R56del1

c.165_167delCCG