Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.Q296H

ABAT

171 papers

RefSeq Summary

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic s...

Pfam Domains

Aminotran_3aa 65–496UCSCAminotransferase class-III

Gene Aliases

HGNC Name

4-aminobutyrate aminotransferase

HGNC Alias Symbols

GABAT; GABA-T

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_020686.6
p.Q296H
c.888G>T
Surrounding Variants
4 papers
NM_020686.6
p.Q296H
c.888G>C
1 paper
NM_020686.6
p.V292M
c.874G>A
1 paper
NM_020686.6
p.A304T
c.910G>A
1 paper
NM_020686.6
p.A304G
c.911C>G
1 paper
NM_020686.6
p.A288V
c.863C>T
1 paper
NM_020686.6
p.V287V
c.861G>C
1 paper
NM_020686.6
p.R310Q
c.929G>A
2 papers
NM_020686.6
p.R281Q
c.842G>A
1 paper
NM_020686.6
p.R281W
c.841C>T
1 paper
NM_020686.6
p.R313I
c.938G>T
1 paper
NM_020686.6
p.A316V
c.947C>T
1 paper
NM_020686.6
p.E274Q
c.820G>C
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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."