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

3 papers

NM_000925.4

p.L104V

c.310T>G

Surrounding Variants

1 paper

NM_000925.4

p.L104_R105insG

c.310_314ins3

1 paper

NM_000925.4

p.R105L

c.314G>T

4 papers

NM_000925.4

p.R105Q

c.314G>A

5 papers

NM_000925.4

p.Y132C

c.395A>G

3 papers

NM_000925.4

p.I142M

c.426A>G

2 papers

NM_000925.4

p.R145R

c.435A>G

4 papers

NM_000925.4

p.G146G

c.438G>A

1 paper

NM_000925.4

p.V154I

c.460G>A

1 paper

NM_000925.4

p.V154A

c.461T>C

1 paper

NM_000925.4

p.Q157L

c.470A>T

1 paper

NM_000925.4

p.H158_S159insG

c.472_476ins3

1 paper

NM_000925.4

p.C161C

c.483C>T