Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.L290del1

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
3 papers
NM_000274.4
p.L290del1
c.868_870delAAG
Surrounding Variants
1 paper
NM_000274.4
p.K292N
c.876G>T
1 paper
NM_000274.4
p.K292N
c.876G>C
1 paper
NM_000274.4
p.I287_V288insFs
c.861_862insG
1 paper
NM_000274.4
p.I287T
c.860T>C
1 paper
NM_000274.4
p.S295F
c.884C>T
2 papers
NM_000274.4
p.G297C
c.889G>T
1 paper
NM_000274.4
p.G297R
c.889G>C
10 papers
NM_000274.4
p.Y299*
c.897C>G
8 papers
NM_000274.4
p.Y299*
c.897C>A
1 paper
NM_000274.4
p.N282T
c.845A>C
2 papers
NM_000274.4
p.P300R
c.899C>G
1 paper
NM_000274.4
p.P300delFs
c.899delG
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