Varaico: Literature-Extracted Genetic Variants

PDHB

89 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the pri...

Pfam Domains

Transket_pyraa 32–209UCSCTransketolase, pyrimidine binding domain

Transketolase_Caa 226–349UCSCTransketolase, C-terminal domain

Gene Aliases

HGNC Name

pyruvate dehydrogenase E1 subunit beta

HGNC Alias Symbols

PDHE1B; E1beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000925.4

p.D50E

c.150T>A

Surrounding Variants

1 paper

NM_000925.4

p.D50E

c.150T>G

1 paper

NM_000925.4

p.V53insFs

c.158_159insG

1 paper

NM_000925.4

p.E46A

c.137A>C

1 paper

NM_000925.4

p.G57delFs

c.169delC

1 paper

NM_000925.4

p.A61delFs

c.181delC

1 paper

NM_000925.4

p.Q62R

c.185A>G

1 paper

NM_000925.4

p.Y63*

c.189T>G

1 paper

NM_000925.4

p.Y63*

c.189T>A

3 papers

NM_000925.4

p.R36C

c.106C>T

1 paper

NM_000925.4

p.V35_R36insFs

c.105_106insA

1 paper

NM_000925.4

p.V35insFs

c.104_105insG

2 papers

NM_000925.4

p.K68N

c.204G>T