Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.H53fs

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.H53fs
c.157_158fs
Surrounding Variants
7 papers
NM_000274.4
p.H53delFs
c.159delG
2 papers
NM_000274.4
p.H53fs
c.157_158fs
1 paper
NM_000274.4
p.N54S
c.161A>G
4 papers
NM_000274.4
p.N54K
c.162C>G
7 papers
NM_000274.4
p.N54K
c.162C>A
1 paper
NM_000274.4
p.A52_H53insFs
c.156_157insC
1 paper
NM_000274.4
p.A52delFs
c.155delG
12 papers
NM_000274.4
p.Y55H
c.163T>C
1 paper
NM_000274.4
p.Y55S
c.164A>C
1 paper
NM_000274.4
p.Y55insFs
c.164_165insA
8 papers
NM_000274.4
p.G51D
c.152G>A
1 paper
NM_000274.4
p.Y48_K49del1
c.143_145delTAT
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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."