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.V185_H187Fs

c.554_559delinsTGTGFs

Surrounding Variants

1 paper

NM_002541.4

p.L182H

c.545T>A

2 papers

NM_002541.4

p.P189L

c.566C>T

1 paper

NM_002541.4

p.L182F

c.544C>T

1 paper

NM_002541.4

p.E179A

c.536A>C

1 paper

NM_002541.4

p.R204W

c.610C>T

1 paper

NM_002541.4

p.R208C

c.622C>T

1 paper

NM_002541.4

p.R209L

c.626G>T

1 paper

NM_002541.4

p.H217Y

c.649C>T

1 paper

NM_002541.4

p.V220A

c.659T>C

1 paper

NM_002541.4

p.V220V

c.660G>C

2 papers

NM_002541.4

p.E229*

c.685G>T

1 paper

NM_002541.4

p.M244L

c.730A>T