Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.D106_T111del6

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.D106_T111del6
c.316_332del18
Surrounding Variants
2 papers
NM_000274.4
p.S112A
c.334T>G
1 paper
NM_000274.4
p.S112Y
c.335C>A
2 papers
NM_000274.4
p.R113*
c.337A>T
1 paper
NM_000274.4
p.S112delFs
c.335_336delAG
1 paper
NM_000274.4
p.A114T
c.340G>A
1 paper
NM_000274.4
p.T109N
c.326C>A
1 paper
NM_000274.4
p.Y116*
c.348T>G
1 paper
NM_000274.4
p.Y116*
c.348T>A
1 paper
NM_000274.4
p.K107*
c.319A>T
4 papers
NM_000274.4
p.Q104R
c.311A>G
1 paper
NM_000274.4
p.G121S
c.361G>A
5 papers
NM_000274.4
p.G121D
c.362G>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."