Varaico: Literature-Extracted Genetic Variants

Gene:GABARAP
Variant:p.K46E

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.K46E
c.136A>G
Surrounding Variants
1 paper
NM_007278.2
p.K46Q
c.136A>C
1 paper
NM_007278.2
p.K48E
c.142A>G
1 paper
NM_007278.2
p.K48Q
c.142A>C
1 paper
NM_007278.2
p.K48R
c.143A>G
1 paper
NM_007278.2
p.Y49fs
c.145_146fs
1 paper
NM_007278.2
p.V51A
c.152T>C
2 papers
NM_007278.2
p.R40R
c.120G>A
1 paper
NM_007278.2
p.V51insFs
c.152_153insT
1 paper
NM_007278.2
p.P52A
c.154C>G
1 paper
NM_007278.2
p.A39T
c.115G>A
2 papers
NM_007278.2
p.D54H
c.160G>C
1 paper
NM_007278.2
p.P37A
c.109C>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."