Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.T272I

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.T272I
c.815C>T
Surrounding Variants
9 papers
NM_000274.4
p.R271K
c.812G>A
1 paper
NM_000274.4
p.R271G
c.811A>G
1 paper
NM_000274.4
p.A270S
c.808G>T
7 papers
NM_000274.4
p.A270P
c.808G>C
5 papers
NM_000274.4
p.W275*
c.824G>A
3 papers
NM_000274.4
p.W275*
c.825G>A
1 paper
NM_000274.4
p.G268A
c.803G>C
1 paper
NM_000274.4
p.Q266_T267delFs
c.797_801del5
9 papers
NM_000274.4
p.T267I
c.800C>T
1 paper
NM_000274.4
p.T267S
c.799A>T
2 papers
NM_000274.4
p.T267P
c.799A>C
1 paper
NM_000274.4
p.Q266*
c.796C>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."