Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.A61A

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.A61A
c.183C>A
Surrounding Variants
1 paper
NM_000274.4
p.L62L
c.184C>T
3 papers
NM_000274.4
p.A61G
c.182C>G
1 paper
NM_000274.4
p.L62P
c.185T>C
2 papers
NM_000274.4
p.R64K
c.191G>A
1 paper
NM_000274.4
p.R64R
c.192A>G
1 paper
NM_000274.4
p.G65fs
c.193_194fs
2 papers
NM_000274.4
p.R64_G65delFs
c.192_193delCT
1 paper
NM_000274.4
p.Y55insFs
c.164_165insA
1 paper
NM_000274.4
p.Y55S
c.164A>C
12 papers
NM_000274.4
p.Y55H
c.163T>C
4 papers
NM_000274.4
p.N54K
c.162C>G
7 papers
NM_000274.4
p.N54K
c.162C>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."