Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.R357*

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.R357*
c.1069A>T
Surrounding Variants
1 paper
NM_000274.4
p.R357insFs
c.1069_1070insAC
2 papers
NM_000274.4
p.G353A
c.1058G>C
17 papers
NM_000274.4
p.G353D
c.1058G>A
1 paper
NM_000274.4
p.D350N
c.1048G>A
1 paper
NM_000274.4
p.P364_S365insFs
c.1092_1093insG
1 paper
NM_000274.4
p.P364P
c.1092T>G
1 paper
NM_000274.4
p.N348I
c.1043A>T
1 paper
NM_000274.4
p.L345R
c.1034T>G
2 papers
NM_000274.4
p.L345P
c.1034T>C
3 papers
NM_000274.4
p.N344delFs
c.1031delT
1 paper
NM_000274.4
p.A370T
c.1108G>A
2 papers
NM_000274.4
p.V371insFs
c.1112dupT
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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."