Varaico: Literature-Extracted Genetic Variants

OGDH

233 papers

RefSeq Summary

This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Kr...

Pfam Domains

2-oxogl_dehyd_Naa 47–87UCSC2-oxoglutarate dehydrogenase N-terminus

E1_dhaa 256–582UCSCDehydrogenase E1 component

Transket_pyraa 649–866UCSCTransketolase, pyrimidine binding domain

OxoGdeHyase_Caa 869–1014UCSC2-oxoglutarate dehydrogenase C-terminal

Gene Aliases

HGNC Name

oxoglutarate dehydrogenase

HGNC Alias Symbols

E1k; OGDC-E1; OGDH2; KGD1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 148 variants

4 papers

NM_002541.4

p.W65S

c.194G>C

4 papers

NM_002541.4

p.D77H

c.229G>C

4 papers

NM_002541.4

p.N320S

c.959A>G

3 papers

NM_002541.4

p.S55L

c.164C>T

2 papers

NM_002541.4

p.Q18L

c.53A>T

2 papers

NM_002541.4

p.R140Q

c.419G>A

2 papers

NM_002541.4

p.S167*

c.500C>A

2 papers

NM_002541.4

p.S167*

c.500C>G

2 papers

NM_002541.4

p.P189L

c.566C>T

2 papers

NM_002541.4

p.E229*

c.685G>T

2 papers

NM_002541.4

p.S297Y

c.890C>A

2 papers

NM_002541.4

p.I358T

c.1073T>C