Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.R426*

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
9 papers
NM_000274.4
p.R426*
c.1276C>T
Surrounding Variants
1 paper
NM_000274.4
p.R426P
c.1277G>C
1 paper
NM_000274.4
p.R426Q
c.1277G>A
2 papers
NM_000274.4
p.I432V
c.1294A>G
3 papers
NM_000274.4
p.L418P
c.1253T>C
8 papers
NM_000274.4
p.P417L
c.1250C>T
3 papers
NM_000274.4
p.I436N
c.1307T>A
4 papers
NM_000274.4
p.L437F
c.1311G>T
3 papers
NM_000274.4
p.L437F
c.1311G>C
6 papers
NM_000274.4
p.I412I
c.1236C>T
1 paper
NM_000274.4
p.I412delFs
c.1235delA
3 papers
NM_000274.4
p.I412T
c.1235T>C
1 paper
NM_000274.4
p.K405delFs
c.1215delC
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