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

1–12 of 91 variants

12 papers

NM_000925.4

p.M101V

c.301A>G

5 papers

NM_000925.4

p.Y132C

c.395A>G

4 papers

NM_000925.4

p.E14_V15Splc

c.42+1G>A

4 papers

NM_000925.4

p.M101T

c.302T>C

4 papers

NM_000925.4

p.R105Q

c.314G>A

4 papers

NM_000925.4

p.G146G

c.438G>A

3 papers

NM_000925.4

p.R36C

c.106C>T

3 papers

NM_000925.4

p.L104V

c.310T>G

3 papers

NM_000925.4

p.I142M

c.426A>G

3 papers

NM_000925.4

p.P344S

c.1030C>T

2 papers

NM_000925.4

p.K68N

c.204G>T

2 papers

NM_000925.4

p.K68N

c.204G>C