Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Y123C

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.Y123C
c.368A>G
Surrounding Variants
1 paper
NM_000274.4
p.Y123*
c.369T>A
1 paper
NM_000274.4
p.E124*
c.370G>T
1 paper
NM_000274.4
p.E122*
c.364G>T
1 paper
NM_000274.4
p.E125*
c.373G>T
5 papers
NM_000274.4
p.G121D
c.362G>A
2 papers
NM_000274.4
p.E125E
c.375G>A
1 paper
NM_000274.4
p.G121S
c.361G>A
1 paper
NM_000274.4
p.E125del1
c.373_375delCTC
1 paper
NM_000274.4
p.Y126C
c.377A>G
1 paper
NM_000274.4
p.I127fs
c.379_380fs
1 paper
NM_000274.4
p.Y126_I127delFs
c.378_379delTA
1 paper
NM_000274.4
p.T128S
c.382A>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."