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.L222P

c.665T>C

Surrounding Variants

1 paper

NM_001931.5

p.V221fs

c.661_662fs

1 paper

NM_001931.5

p.V221_L222delFs

c.661_664del4

1 paper

NM_001931.5

p.G233_T234delFs

c.697_700del4

2 papers

NM_001931.5

p.E239K

c.715G>A

1 paper

NM_001931.5

p.K241fs

c.721_722fs

1 paper

NM_001931.5

p.V242fs

c.724_725fs

1 paper

NM_001931.5

p.V242fs

c.724_725fs

1 paper

NM_001931.5

p.E248D

c.744A>C

1 paper

NM_001931.5

p.E248D

c.744A>T

2 papers

NM_001931.5

p.G249R

c.745G>A

2 papers

NM_001931.5

p.G249R

c.745G>C

1 paper

NM_001931.5

p.A253S

c.757G>T