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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OAT

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 324 variants

34 papers

chr10:124403892 G>A

NM_000274.4

p.A226V

c.677C>T

Aminotran_3

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

23 papers

chr10:124405545 C>G

NM_000274.4

p.R180T

c.539G>C

Aminotran_3

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=10, hom=0)9 overlapping SVs

22 papers

chr10:124398057 A>G

NM_000274.4

p.L402P

c.1205T>C

Aminotran_3

Exome: 0.0% (AC=149, hom=0)Genome: 0.0% (AC=30, hom=1)8 overlapping SVs

17 papers

chr10:124400941 C>T

NM_000274.4

p.G353D

c.1058G>A

Aminotran_3

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

15 papers

chr10:124401746 C>T

NM_000274.4

p.V332M

c.994G>A

Aminotran_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

12 papers

chr10:124412009 A>G

NM_000274.4

p.Y55H

c.163T>C

Aminotran_3

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

12 papers

chr10:124398070 G>A

NM_000274.4

p.R398*

c.1192C>T

Aminotran_3

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)8 overlapping SVs

10 papers

chr10:124408897 G>C

NM_000274.4

p.Q90E

c.268C>G

Aminotran_3

exact variant not in gnomAD10 overlapping SVs

10 papers

chr10:124408601 C>A

NM_000274.4

p.R154L

c.461G>T

Aminotran_3

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

10 papers

chr10:124403847 G>A

NM_000274.4

p.P241L

c.722C>T

Aminotran_3

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

10 papers

chr10:124403835 T>C

NM_000274.4

p.Y245C

c.734A>G

Aminotran_3

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

10 papers

chr10:124402930 G>C

NM_000274.4

p.Y299*

c.897C>G

Aminotran_3

Exome: 0.0% (AC=74, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

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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."