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.A96A

c.288T>C

Surrounding Variants

12 papers

NM_000925.4

p.M101V

c.301A>G

4 papers

NM_000925.4

p.M101T

c.302T>C

1 paper

NM_000925.4

p.M101_A102Splc

c.303+16T>C

1 paper

NM_000925.4

p.S88S

c.264A>T

1 paper

NM_000925.4

p.I87I

c.261A>C

1 paper

NM_000925.4

p.V69G

c.206T>G

2 papers

NM_000925.4

p.K68N

c.204G>T

2 papers

NM_000925.4

p.K68N

c.204G>C

1 paper

NM_000925.4

p.Y63*

c.189T>G

1 paper

NM_000925.4

p.Y63*

c.189T>A

1 paper

NM_000925.4

p.Q62R

c.185A>G

1 paper

NM_000925.4

p.A61delFs

c.181delC