Varaico: Literature-Extracted Genetic Variants

PDHX

224 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. ...

Pfam Domains

Biotin_lipoylaa 1–71UCSCBiotin-requiring enzyme

Biotin_lipoylaa 57–131UCSCBiotin-requiring enzyme

E3_bindingaa 122–157UCSCe3 binding domain

E3_bindingaa 182–217UCSCe3 binding domain

Gene Aliases

HGNC Name

pyruvate dehydrogenase complex component X

HGNC Alias Symbols

E3BP; OPDX; DLDBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003477.3

p.S36A

c.106T>G

Surrounding Variants

1 paper

NM_003477.3

p.W35*

c.105G>A

1 paper

NM_003477.3

p.W35_S36insFs

c.105_106insA

1 paper

NM_003477.3

p.W35*

c.104G>A

1 paper

NM_003477.3

p.S36S

c.108T>C

1 paper

NM_003477.3

p.G34delFs

c.101_102delGG

1 paper

NM_003477.3

p.A32T

c.94G>A

1 paper

NM_003477.3

p.G40R

c.118G>A

4 papers

NM_003477.3

p.V29E

c.86T>A

1 paper

NM_003477.3

p.W43*

c.129G>A

1 paper

NM_003477.3

p.G27W

c.79G>T

1 paper

NM_003477.3

p.T49S

c.145A>T

1 paper

NM_003477.3

p.R23fs

c.67_68fs