Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.R180T

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
23 papers
NM_000274.4
p.R180T
c.539G>C
Surrounding Variants
1 paper
NM_000274.4
p.R180W
c.538A>T
2 papers
NM_000274.4
p.W178_G179delFs
c.532_536del5
1 paper
NM_000274.4
p.T181A
c.541A>G
5 papers
NM_000274.4
p.T181M
c.542C>T
4 papers
NM_000274.4
p.W178*
c.534G>A
1 paper
NM_000274.4
p.L182*
c.545T>A
5 papers
NM_000274.4
p.W178*
c.533G>A
1 paper
NM_000274.4
p.L182insFs
c.545dupT
3 papers
NM_000274.4
p.A184T
c.550G>A
1 paper
NM_000274.4
p.A184V
c.551C>T
1 paper
NM_000274.4
p.A184delFs
c.550delC
1 paper
NM_000274.4
p.N176H
c.526A>C
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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."