Varaico: Literature-Extracted Genetic Variants

Gene:ABAT

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
1–12 of 198 variants
12 papers
NM_020686.6
p.R92Q
c.275G>A
11 papers
NM_020686.6
p.P152S
c.454C>T
11 papers
NM_020686.6
p.R220K
c.659G>A
11 papers
NM_020686.6
p.G465R
c.1393G>C
10 papers
NM_020686.6
p.L211F
c.631C>T
7 papers
NM_020686.6
p.Q56R
c.167A>G
7 papers
NM_020686.6
p.L478P
c.1433T>C
5 papers
NM_020686.6
p.R180W
c.538C>T
5 papers
NM_020686.6
p.F213C
c.638T>G
4 papers
NM_020686.6
p.Q56_E57Splc
c.168+1G>A
4 papers
NM_020686.6
p.Q296H
c.888G>C
4 papers
NM_020686.6
p.Q296H
c.888G>T
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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."