Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.E318fs

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.E318fs
c.952_953fs
Surrounding Variants
8 papers
NM_000274.4
p.H319Y
c.955C>T
2 papers
NM_000274.4
p.E318delFs
c.952delC
10 papers
NM_000274.4
p.E318K
c.952G>A
1 paper
NM_000274.4
p.P316L
c.947C>T
1 paper
NM_000274.4
p.K315R
c.944A>G
1 paper
NM_000274.4
p.T322I
c.965C>T
1 paper
NM_000274.4
p.I314S
c.941T>G
2 papers
NM_000274.4
p.Y323H
c.967T>C
1 paper
NM_000274.4
p.Y323*
c.969C>G
1 paper
NM_000274.4
p.Y323*
c.969C>A
3 papers
NM_000274.4
p.G324S
c.970G>A
1 paper
NM_000274.4
p.M311I
c.933G>A
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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."