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.T362A

c.1084A>G

Surrounding Variants

1 paper

NM_002541.4

p.D363G

c.1088A>G

2 papers

NM_002541.4

p.I358T

c.1073T>C

1 paper

NM_002541.4

p.I366V

c.1096A>G

1 paper

NM_002541.4

p.A372T

c.1114G>A

1 paper

NM_002541.4

p.A380_T388delFs

c.1140_1162del23

1 paper

NM_002541.4

p.A390D

c.1169C>A

1 paper

NM_002541.4

p.Y394N

c.1180T>A

1 paper

NM_002541.4

p.E399K

c.1195G>A

1 paper

NM_002541.4

p.G400R

c.1198G>A

1 paper

NM_002541.4

p.K324M

c.971A>T

4 papers

NM_002541.4

p.N320S

c.959A>G

1 paper

NM_002541.4

p.N320I

c.959A>T