Varaico: Literature-Extracted Genetic Variants

Gene:GABARAP

GABARAP

89 papers

RefSeq Summary

Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is hi...

Pfam Domains

ATG8aa 13–116UCSCAutophagy protein Atg8 ubiquitin like

Gene Aliases

HGNC Name

GABA type A receptor-associated protein

HGNC Alias Symbols

MM46; ATG8A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
5 papers
NM_007278.2
p.G116A
c.347G>C
3 papers
NM_007278.2
p.Y25H
c.73T>C
2 papers
NM_007278.2
p.K24E
c.70A>G
2 papers
NM_007278.2
p.K24Q
c.70A>C
2 papers
NM_007278.2
p.R40R
c.120G>A
2 papers
NM_007278.2
p.D54H
c.160G>C
1 paper
NM_007278.2
p.F3S
c.8T>C
1 paper
NM_007278.2
p.K6R
c.17A>G
1 paper
NM_007278.2
p.E7insFs
c.21dupA
1 paper
NM_007278.2
p.E8K
c.22G>A
1 paper
NM_007278.2
p.E7_E8del1
c.21_23delTCT
1 paper
NM_007278.2
p.H9Q
c.27T>G
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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."