Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.L328P

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.L328P
c.983T>C
Surrounding Variants
3 papers
NM_000274.4
p.P327R
c.980C>G
1 paper
NM_000274.4
p.N326K
c.978T>G
2 papers
NM_000274.4
p.N326K
c.978T>A
8 papers
NM_000274.4
p.R331*
c.991C>T
1 paper
NM_000274.4
p.G325G
c.975C>G
15 papers
NM_000274.4
p.V332M
c.994G>A
3 papers
NM_000274.4
p.G324S
c.970G>A
1 paper
NM_000274.4
p.Y323*
c.969C>G
1 paper
NM_000274.4
p.Y323*
c.969C>A
2 papers
NM_000274.4
p.Y323H
c.967T>C
1 paper
NM_000274.4
p.T322I
c.965C>T
2 papers
NM_000274.4
p.A335T
c.1003G>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."