Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.N140delFs

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.N140delFs
c.419delT
Surrounding Variants
1 paper
NM_000274.4
p.M139R
c.416T>G
1 paper
NM_000274.4
p.G142Splc
c.424+1G>T
1 paper
NM_000274.4
p.G142Splc
c.424+1G>A
1 paper
NM_000274.4
p.V136_L137ins1
c.408_409insGAG
1 paper
NM_000274.4
p.K135I
c.404A>T
1 paper
NM_000274.4
p.K135*
c.403A>T
1 paper
NM_000274.4
p.H134Q
c.402C>A
1 paper
NM_000274.4
p.Y133*
c.399C>G
1 paper
NM_000274.4
p.N132I
c.395A>T
1 paper
NM_000274.4
p.T128S
c.382A>T
1 paper
NM_000274.4
p.I127insFs
c.381dupT
1 paper
NM_000274.4
p.I127delFs
c.381delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."