Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Y158_G162del0

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.Y158_G162del0
c.472_486del15
Surrounding Variants
2 papers
NM_000274.4
p.K165*
c.493A>T
1 paper
NM_000274.4
p.V160M
c.478G>A
2 papers
NM_000274.4
p.Y166*
c.498C>G
4 papers
NM_000274.4
p.Y166*
c.498C>A
6 papers
NM_000274.4
p.Y158S
c.473A>C
1 paper
NM_000274.4
p.G157S
c.469G>A
2 papers
NM_000274.4
p.K169fs
c.505_506fs
3 papers
NM_000274.4
p.W156*
c.468G>A
2 papers
NM_000274.4
p.A168_K169delFs
c.504_505delTT
1 paper
NM_000274.4
p.Y166_K169del0
c.498_506del9
1 paper
NM_000274.4
p.I170T
c.509T>C
1 paper
NM_000274.4
p.V171A
c.512T>C
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