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.T262fs

c.784_785fs

Surrounding Variants

1 paper

NM_002541.4

p.T262fs

c.784_785fs

1 paper

NM_002541.4

p.T262delFs

c.784_785delAC

1 paper

NM_002541.4

p.R263G

c.787A>G

1 paper

NM_002541.4

p.R263S

c.789G>C

1 paper

NM_002541.4

p.R263S

c.789G>T

1 paper

NM_002541.4

p.L258_V259delFs

c.774_775delTG

1 paper

NM_002541.4

p.Q245*

c.733C>T

1 paper

NM_002541.4

p.M244L

c.730A>T

2 papers

NM_002541.4

p.E229*

c.685G>T

1 paper

NM_002541.4

p.V220V

c.660G>C

1 paper

NM_002541.4

p.V220A

c.659T>C

1 paper

NM_002541.4

p.H217Y

c.649C>T