Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.A33P

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
1 paper
NM_020686.6
p.A33P
c.97G>C
Surrounding Variants
1 paper
NM_020686.6
p.Q30Q
c.90A>G
3 papers
NM_020686.6
p.D36H
c.106G>C
1 paper
NM_020686.6
p.V37I
c.109G>A
1 paper
NM_020686.6
p.V37F
c.109G>T
1 paper
NM_020686.6
p.S29_F39delFs
c.85_116del32
1 paper
NM_020686.6
p.F39I
c.115T>A
1 paper
NM_020686.6
p.K47N
c.141G>C
1 paper
NM_020686.6
p.K47N
c.141G>T
1 paper
NM_020686.6
p.T48M
c.143C>T
7 papers
NM_020686.6
p.Q56R
c.167A>G
4 papers
NM_020686.6
p.Q56_E57Splc
c.168+1G>A
1 paper
NM_020686.6
p.Q56_E57Splc
c.169-5T>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."