Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.M93I

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.M93I
c.279G>T
Surrounding Variants
1 paper
NM_020686.6
p.M93I
c.279G>A
1 paper
NM_020686.6
p.M93I
c.279G>C
12 papers
NM_020686.6
p.R92Q
c.275G>A
1 paper
NM_020686.6
p.D89D
c.267C>T
1 paper
NM_020686.6
p.D89A
c.266A>C
1 paper
NM_020686.6
p.V103D
c.308T>A
1 paper
NM_020686.6
p.V103V
c.309C>T
1 paper
NM_020686.6
p.P104L
c.311C>T
1 paper
NM_020686.6
p.I105T
c.314T>C
1 paper
NM_020686.6
p.G106S
c.316G>A
1 paper
NM_020686.6
p.G106Splc
c.316+1G>A
1 paper
NM_020686.6
p.E79V
c.236A>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."