Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.S83N

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.S83N
c.248G>A
Surrounding Variants
2 papers
NM_000274.4
p.L82P
c.245T>C
1 paper
NM_000274.4
p.S84F
c.251C>T
1 paper
NM_000274.4
p.L82L
c.244C>T
1 paper
NM_000274.4
p.Y85D
c.253T>G
1 paper
NM_000274.4
p.F81Y
c.242T>A
7 papers
NM_000274.4
p.N89K
c.267C>G
8 papers
NM_000274.4
p.N89K
c.267C>A
1 paper
NM_000274.4
p.K77E
c.229A>G
10 papers
NM_000274.4
p.Q90E
c.268C>G
3 papers
NM_000274.4
p.G91R
c.271G>C
3 papers
NM_000274.4
p.G91R
c.271G>A
5 papers
NM_000274.4
p.G91E
c.272G>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."