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.I423N

c.1268T>A

Surrounding Variants

1 paper

NM_001931.5

p.P424L

c.1271C>T

1 paper

NM_001931.5

p.V404delFs

c.1212delT

1 paper

NM_001931.5

p.A400P

c.1198G>C

1 paper

NM_001931.5

p.Q434_Q438delFs

c.1300_1313del14

1 paper

NM_001931.5

p.M437V

c.1309A>G

6 papers

NM_001931.5

p.D451N

c.1351G>A

1 paper

NM_001931.5

p.P399_A400Splc

c.1197+79C>T

1 paper

NM_001931.5

p.K387_D388insFs

c.1159_1162dup4

1 paper

NM_001931.5

p.K386T

c.1157A>C

1 paper

NM_001931.5

p.P380_D388delFs

c.1140_1162del23

1 paper

NM_001931.5

p.L372F

c.1114C>T

1 paper

NM_001931.5

p.K368E

c.1102A>G