Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.A149_C150delFs

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.A149_C150delFs
c.445_448del4
Surrounding Variants
1 paper
NM_000274.4
p.C150R
c.448T>C
1 paper
NM_000274.4
p.K151R
c.452A>G
3 papers
NM_000274.4
p.T148T
c.444T>C
2 papers
NM_000274.4
p.R154C
c.460C>T
10 papers
NM_000274.4
p.R154L
c.461G>T
4 papers
NM_000274.4
p.R154H
c.461G>A
1 paper
NM_000274.4
p.V143_A145del3
c.427_434del9
1 paper
NM_000274.4
p.A145D
c.434C>A
3 papers
NM_000274.4
p.W156*
c.468G>A
1 paper
NM_000274.4
p.G157S
c.469G>A
1 paper
NM_000274.4
p.E144*
c.430G>T
1 paper
NM_000274.4
p.E144K
c.430G>A
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