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

Selected Variant

1 paper

NM_002541.4

p.R27K

c.80G>A

Surrounding Variants

1 paper

NM_002541.4

p.R27I

c.80G>T

1 paper

NM_002541.4

p.A30P

c.88G>C

1 paper

NM_002541.4

p.S24L

c.71C>T

1 paper

NM_002541.4

p.A31T

c.91G>A

1 paper

NM_002541.4

p.A31V

c.92C>T

1 paper

NM_002541.4

p.F34I

c.100T>A

1 paper

NM_002541.4

p.Q35_Q36insFs

c.105_106insA

2 papers

NM_002541.4

p.Q18L

c.53A>T

1 paper

NM_002541.4

p.T15A

c.43A>G

1 paper

NM_002541.4

p.Y40F

c.119A>T

1 paper

NM_002541.4

p.F49I

c.145T>A

1 paper

NM_002541.4

p.H3Y

c.7C>T