Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.D399delFs

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.D399delFs
c.1195delC
Surrounding Variants
12 papers
NM_000274.4
p.R398*
c.1192C>T
5 papers
NM_000274.4
p.G401*
c.1201G>T
1 paper
NM_000274.4
p.L402F
c.1204C>T
22 papers
NM_000274.4
p.L402P
c.1205T>C
6 papers
NM_000274.4
p.R396*
c.1186C>T
1 paper
NM_000274.4
p.L395fs
c.1183_1184fs
1 paper
NM_000274.4
p.L403P
c.1208T>C
1 paper
NM_000274.4
p.V393_C394insFs
c.1179_1182dup4
6 papers
NM_000274.4
p.C394Y
c.1181G>A
1 paper
NM_000274.4
p.A404D
c.1211C>A
7 papers
NM_000274.4
p.C394R
c.1180T>C
1 paper
NM_000274.4
p.K405delFs
c.1215delC
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