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

2 papers

NM_000925.4

p.D319V

c.956A>T

Surrounding Variants

1 paper

NM_000925.4

p.D319A

c.956A>C

1 paper

NM_000925.4

p.D319N

c.955G>A

1 paper

NM_000925.4

p.L318Q

c.953T>A

3 papers

NM_000925.4

p.P344S

c.1030C>T

1 paper

NM_000925.4

p.D348N

c.1042G>A

1 paper

NM_000925.4

p.K354N

c.1062G>T

1 paper

NM_000925.4

p.K354N

c.1062G>C

1 paper

NM_000925.4

p.G312Splc

c.934+1G>A

1 paper

NM_000925.4

p.R308T

c.923G>C

1 paper

NM_000925.4

p.A307S

c.919G>T

2 papers

NM_000925.4

p.C306R

c.916T>C

1 paper

NM_000925.4

p.G302E

c.905G>A