Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.A202V

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.A202V
c.605C>T
Surrounding Variants
1 paper
NM_020686.6
p.A202T
c.604G>A
1 paper
NM_020686.6
p.D207N
c.619G>A
1 paper
NM_020686.6
p.D207delFs
c.621delC
10 papers
NM_020686.6
p.L211F
c.631C>T
1 paper
NM_020686.6
p.L211P
c.632T>C
5 papers
NM_020686.6
p.F213C
c.638T>G
1 paper
NM_020686.6
p.M214_G215insT
c.640_644ins3
2 papers
NM_020686.6
p.M214T
c.641T>C
1 paper
NM_020686.6
p.A216T
c.646G>A
1 paper
NM_020686.6
p.G219R
c.655G>A
1 paper
NM_020686.6
p.G219A
c.656G>C
11 papers
NM_020686.6
p.R220K
c.659G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."