Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.F227insFs

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.F227insFs
c.680dupT
Surrounding Variants
34 papers
NM_000274.4
p.A226V
c.677C>T
1 paper
NM_000274.4
p.V224_A225del0
c.670_675del6
4 papers
NM_000274.4
p.Q233R
c.698A>G
2 papers
NM_000274.4
p.Q233Q
c.699G>A
1 paper
NM_000274.4
p.Q220insFs
c.658_659insG
2 papers
NM_000274.4
p.E235A
c.704A>C
1 paper
NM_000274.4
p.G237V
c.710G>T
9 papers
NM_000274.4
p.G237D
c.710G>A
1 paper
NM_000274.4
p.R217H
c.650G>A
1 paper
NM_000274.4
p.E216_R217Splc
c.649-2A>G
1 paper
NM_000274.4
p.V239insFs
c.715dupG
10 papers
NM_000274.4
p.P241L
c.722C>T
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