Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.E79V

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.E79V
c.236A>T
Surrounding Variants
1 paper
NM_020686.6
p.E78*
c.232G>T
1 paper
NM_020686.6
p.Y77*
c.231C>A
1 paper
NM_020686.6
p.Y77*
c.231C>G
1 paper
NM_020686.6
p.F73I
c.217T>A
1 paper
NM_020686.6
p.H72insFs
c.214_215insT
1 paper
NM_020686.6
p.D89A
c.266A>C
1 paper
NM_020686.6
p.D89D
c.267C>T
1 paper
NM_020686.6
p.E69K
c.205G>A
1 paper
NM_020686.6
p.E69_F74insFs
c.206_222dup17
1 paper
NM_020686.6
p.E69fs
c.205_206fs
12 papers
NM_020686.6
p.R92Q
c.275G>A
1 paper
NM_020686.6
p.M93I
c.279G>A
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