Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.E248Q

AAGAB

205 papers

RefSeq Summary

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with ty...

Pfam Domains

Adaptin_bindingaa 155–294UCSCAlpha and gamma adaptin binding protein p34

Gene Aliases

HGNC Name

alpha and gamma adaptin binding protein

HGNC Alias Symbols

FLJ11506; p34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024666.5
p.E248Q
c.742G>C
Surrounding Variants
1 paper
NM_024666.5
p.L252insFs
c.755_756ins10
1 paper
NM_024666.5
p.L252_T253insFs
c.756_757ins10
3 papers
NM_024666.5
p.L242*
c.725T>G
2 papers
NM_024666.5
p.L242*
c.725T>A
1 paper
NM_024666.5
p.S267A
c.799T>G
1 paper
NM_024666.5
p.T278A
c.832A>G
1 paper
NM_024666.5
p.L279R
c.836T>G
2 papers
NM_024666.5
p.E282K
c.844G>A
10 papers
NM_024666.5
p.K290_V291Splc
c.870+1G>A
1 paper
NM_024666.5
p.G300G
c.900G>A
1 paper
NM_024666.5
p.D312N
c.934G>A
1 paper
NM_024666.5
p.V238A
c.713T>C
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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."