Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.Y245C

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
10 papers
NM_000274.4
p.Y245C
c.734A>G
Surrounding Variants
1 paper
NM_000274.4
p.G244_Y245delFs
c.732_733delAA
1 paper
NM_000274.4
p.G248A
c.743G>C
1 paper
NM_000274.4
p.G234_P241delFs
c.701_722del22
1 paper
NM_000274.4
p.P241insFs
c.721_722dupCC
10 papers
NM_000274.4
p.P241L
c.722C>T
8 papers
NM_000274.4
p.R250*
c.748C>T
7 papers
NM_000274.4
p.R250P
c.749G>C
1 paper
NM_000274.4
p.R250Q
c.749G>A
1 paper
NM_000274.4
p.E251Q
c.751G>C
1 paper
NM_000274.4
p.V239insFs
c.715dupG
1 paper
NM_000274.4
p.G237V
c.710G>T
9 papers
NM_000274.4
p.G237D
c.710G>A
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