Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.F125delFs

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.F125delFs
c.374delT
Surrounding Variants
1 paper
NM_020686.6
p.A130V
c.389C>T
1 paper
NM_020686.6
p.G132V
c.395G>T
2 papers
NM_020686.6
p.P136L
c.407C>T
1 paper
NM_020686.6
p.V140A
c.419T>C
1 paper
NM_020686.6
p.L143delFs
c.427delC
1 paper
NM_020686.6
p.L143L
c.429C>G
2 papers
NM_020686.6
p.S149L
c.446C>T
1 paper
NM_020686.6
p.S149_V150Splc
c.448-15T>A
11 papers
NM_020686.6
p.P152S
c.454C>T
1 paper
NM_020686.6
p.G154_L158delFs
c.460_473del14
1 paper
NM_020686.6
p.T160I
c.479C>T
2 papers
NM_020686.6
p.G164S
c.490G>A
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