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.P98L

c.293C>T

Surrounding Variants

1 paper

NM_002541.4

p.P98A

c.292C>G

1 paper

NM_002541.4

p.L97P

c.290T>C

1 paper

NM_002541.4

p.R101*

c.301C>T

1 paper

NM_002541.4

p.L104L

c.312G>T

1 paper

NM_002541.4

p.P88P

c.264A>G

1 paper

NM_002541.4

p.A110P

c.328G>C

1 paper

NM_002541.4

p.S112C

c.335C>G

1 paper

NM_002541.4

p.T83S

c.247A>T

1 paper

NM_002541.4

p.F80Y

c.239T>A

1 paper

NM_002541.4

p.F80fs

c.238_239fs

1 paper

NM_002541.4

p.I78fs

c.232_233fs

4 papers

NM_002541.4

p.D77H

c.229G>C