Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Y194*

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
2 papers
NM_000274.4
p.Y194*
c.582C>G
Surrounding Variants
2 papers
NM_000274.4
p.Y194*
c.582C>A
2 papers
NM_000274.4
p.D195Y
c.583G>T
1 paper
NM_000274.4
p.T192_S193del2
c.574_578del6
1 paper
NM_000274.4
p.T192I
c.575C>T
1 paper
NM_000274.4
p.G198E
c.593G>A
7 papers
NM_000274.4
p.P199Q
c.596C>A
1 paper
NM_000274.4
p.F200del1
c.598_599delAAA
1 paper
NM_000274.4
p.M201_P202insFs
c.603_604insG
1 paper
NM_000274.4
p.I185_S187Fs
c.554_559delinsTGTGFs
1 paper
NM_000274.4
p.S186Y
c.557C>A
1 paper
NM_000274.4
p.I185I
c.555C>T
2 papers
NM_000274.4
p.A184del1
c.550_552delAGC
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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."