Varaico: Literature-Extracted Genetic Variants

Gene:GABARAP
Variant:p.E73K

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
Selected Variant
1 paper
NM_007278.2
p.E73K
c.217G>A
Surrounding Variants
1 paper
NM_007278.2
p.K66E
c.196A>G
1 paper
NM_007278.2
p.N81S
c.242A>G
1 paper
NM_007278.2
p.L63F
c.189G>T
1 paper
NM_007278.2
p.L63F
c.189G>C
1 paper
NM_007278.2
p.N82delFs
c.244delT
1 paper
NM_007278.2
p.F62L
c.186C>G
1 paper
NM_007278.2
p.F62L
c.186C>A
1 paper
NM_007278.2
p.F62L
c.184T>C
1 paper
NM_007278.2
p.F60L
c.180C>G
1 paper
NM_007278.2
p.F60L
c.180C>A
1 paper
NM_007278.2
p.F60L
c.178T>C
1 paper
NM_007278.2
p.Q59E
c.175C>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."