Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.G154_L158delFs

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.G154_L158delFs
c.460_473del14
Surrounding Variants
11 papers
NM_020686.6
p.P152S
c.454C>T
1 paper
NM_020686.6
p.T160I
c.479C>T
1 paper
NM_020686.6
p.S149_V150Splc
c.448-15T>A
2 papers
NM_020686.6
p.G164S
c.490G>A
1 paper
NM_020686.6
p.G164fs
c.490_491fs
1 paper
NM_020686.6
p.G164delFs
c.492delC
1 paper
NM_020686.6
p.T174I
c.521C>T
1 paper
NM_020686.6
p.M177T
c.530T>C
1 paper
NM_020686.6
p.Y179S
c.536A>C
5 papers
NM_020686.6
p.R180W
c.538C>T
2 papers
NM_020686.6
p.S149L
c.446C>T
1 paper
NM_020686.6
p.L143L
c.429C>G
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