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.Q505H

c.1515A>T

Surrounding Variants

1 paper

NM_001931.5

p.Q505H

c.1515A>C

1 paper

NM_001931.5

p.T501K

c.1502C>A

1 paper

NM_001931.5

p.E493_T501del9

c.1477_1502del27

1 paper

NM_001931.5

p.S475C

c.1424C>G

1 paper

NM_001931.5

p.Q505Splc

c.1514+3400C>T

6 papers

NM_001931.5

p.D451N

c.1351G>A

1 paper

NM_001931.5

p.M437V

c.1309A>G

1 paper

NM_001931.5

p.Q434_Q438delFs

c.1300_1313del14

1 paper

NM_001931.5

p.P424L

c.1271C>T

1 paper

NM_001931.5

p.I423N

c.1268T>A

1 paper

NM_001931.5

p.V404delFs

c.1212delT

1 paper

NM_001931.5

p.A400P

c.1198G>C