Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.K405delFs

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.K405delFs
c.1215delC
Surrounding Variants
1 paper
NM_000274.4
p.A404D
c.1211C>A
1 paper
NM_000274.4
p.L403P
c.1208T>C
22 papers
NM_000274.4
p.L402P
c.1205T>C
1 paper
NM_000274.4
p.L402F
c.1204C>T
5 papers
NM_000274.4
p.G401*
c.1201G>T
3 papers
NM_000274.4
p.I412T
c.1235T>C
6 papers
NM_000274.4
p.I412I
c.1236C>T
1 paper
NM_000274.4
p.I412delFs
c.1235delA
1 paper
NM_000274.4
p.D399delFs
c.1195delC
12 papers
NM_000274.4
p.R398*
c.1192C>T
6 papers
NM_000274.4
p.R396*
c.1186C>T
1 paper
NM_000274.4
p.L395fs
c.1183_1184fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."