Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.I206L

OAT

387 papers

RefSeq Summary

This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitt...

Pfam Domains

Aminotran_3aa 50–436UCSCAminotransferase class-III

Gene Aliases

HGNC Name

ornithine aminotransferase

HGNC Alias Names

Ornithine aminotransferase; ornithine aminotransferase precursor; gyrate atrophy

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000274.4
p.I206L
c.616A>C
Surrounding Variants
1 paper
NM_000274.4
p.I206delFs
c.616delT
2 papers
NM_000274.4
p.Y209*
c.627T>G
5 papers
NM_000274.4
p.Y209*
c.627T>A
1 paper
NM_000274.4
p.M201_P202insFs
c.603_604insG
1 paper
NM_000274.4
p.N210S
c.629A>G
1 paper
NM_000274.4
p.F200del1
c.598_599delAAA
2 papers
NM_000274.4
p.L212L
c.634C>T
7 papers
NM_000274.4
p.P199Q
c.596C>A
1 paper
NM_000274.4
p.G198E
c.593G>A
3 papers
NM_000274.4
p.A214T
c.640G>A
1 paper
NM_000274.4
p.E216D
c.648G>C
2 papers
NM_000274.4
p.D195Y
c.583G>T
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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."