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

2 papers

NM_002541.4

p.R140Q

c.419G>A

Surrounding Variants

1 paper

NM_002541.4

p.H143Y

c.427C>T

1 paper

NM_002541.4

p.L150V

c.448C>G

1 paper

NM_002541.4

p.P162S

c.484C>T

1 paper

NM_002541.4

p.I166I

c.498C>T

2 papers

NM_002541.4

p.S167*

c.500C>A

2 papers

NM_002541.4

p.S167*

c.500C>G

1 paper

NM_002541.4

p.I134F

c.400A>T

1 paper

NM_002541.4

p.S132S

c.396G>A

1 paper

NM_002541.4

p.D121G

c.362A>G

1 paper

NM_002541.4

p.S112C

c.335C>G

1 paper

NM_002541.4

p.A110P

c.328G>C

1 paper

NM_002541.4

p.L104L

c.312G>T