Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.I64V

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.I64V
c.190A>G
Surrounding Variants
1 paper
NM_020686.6
p.I64_Q66del3
c.190_197del9
2 papers
NM_020686.6
p.Q66del1
c.196_197delCAG
1 paper
NM_020686.6
p.K60N
c.180A>C
1 paper
NM_020686.6
p.K60N
c.180A>T
1 paper
NM_020686.6
p.M59I
c.177G>A
1 paper
NM_020686.6
p.M59I
c.177G>C
1 paper
NM_020686.6
p.M59I
c.177G>T
1 paper
NM_020686.6
p.E57A
c.170A>C
1 paper
NM_020686.6
p.Q56_E57Splc
c.169-5T>C
4 papers
NM_020686.6
p.Q56_E57Splc
c.168+1G>A
7 papers
NM_020686.6
p.Q56R
c.167A>G
1 paper
NM_020686.6
p.T48M
c.143C>T
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