Varaico: Literature-Extracted Genetic Variants

OGDHL

108 papers

RefSeq Summary

The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appe...

Pfam Domains

2-oxogl_dehyd_Naa 42–81UCSC2-oxoglutarate dehydrogenase N-terminus

E1_dhaa 243–569UCSCDehydrogenase E1 component

Transket_pyraa 636–852UCSCTransketolase, pyrimidine binding domain

Gene Aliases

HGNC Name

oxoglutarate dehydrogenase L

HGNC Alias Symbol

FLJ10851

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_018245.3

p.D491V

c.1472A>T

Surrounding Variants

3 papers

NM_018245.3

p.V488V

c.1464T>C

1 paper

NM_018245.3

p.E468Q

c.1402G>C

1 paper

NM_018245.3

p.A464S

c.1390G>T

2 papers

NM_018245.3

p.F460L

c.1380C>G

2 papers

NM_018245.3

p.F460L

c.1380C>A

2 papers

NM_018245.3

p.F460L

c.1378T>C

2 papers

NM_018245.3

p.A457A

c.1371G>A

1 paper

NM_018245.3

p.R453W

c.1357C>T

1 paper

NM_018245.3

p.Y447C

c.1340A>G

2 papers

NM_018245.3

p.S445L

c.1334C>T

3 papers

NM_018245.3

p.R440*

c.1318C>T

1 paper

NM_018245.3

p.D438N

c.1312G>A