Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.L487Q

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
2 papers
NM_020686.6
p.L487Q
c.1460T>A
Surrounding Variants
1 paper
NM_020686.6
p.L487P
c.1460T>C
1 paper
NM_020686.6
p.N490S
c.1469A>G
1 paper
NM_020686.6
p.H483Q
c.1449C>G
1 paper
NM_020686.6
p.D494N
c.1480G>A
2 papers
NM_020686.6
p.F480C
c.1439T>G
1 paper
NM_020686.6
p.V479F
c.1435G>T
7 papers
NM_020686.6
p.L478P
c.1433T>C
1 paper
NM_020686.6
p.L478R
c.1433T>G
1 paper
NM_020686.6
p.L478L
c.1432C>T
1 paper
NM_020686.6
p.A497T
c.1489G>A
1 paper
NM_020686.6
p.D498N
c.1492G>A
1 paper
NM_020686.6
p.F499V
c.1495T>G
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