Varaico: Literature-Extracted Genetic Variants

Gene:OGDHL

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
2-oxogl_dehyd_Naa 42–81UCSC2-oxoglutarate dehydrogenase N-terminus
2-oxogl_dehyd_Naa 42–81UCSC2-oxoglutarate dehydrogenase N-terminus
E1_dhaa 243–569UCSCDehydrogenase E1 component
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
1–12 of 141 variants
8 papers
NM_018245.3
p.F734S
c.2201T>C
6 papers
NM_018245.3
p.R244W
c.730C>T
6 papers
NM_018245.3
p.S778L
c.2333C>T
5 papers
NM_018245.3
p.W220C
c.660G>C
4 papers
NM_018245.3
p.W220C
c.660G>T
4 papers
NM_018245.3
p.R299G
c.895A>G
4 papers
NM_018245.3
p.A327V
c.980C>T
4 papers
NM_018245.3
p.A400T
c.1198G>A
4 papers
NM_018245.3
p.D491V
c.1472A>T
4 papers
NM_018245.3
p.T637M
c.1910C>T
4 papers
NM_018245.3
p.R673Q
c.2018G>A
4 papers
NM_018245.3
p.N725S
c.2174A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."