Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.G158delFs

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
9 papers
NM_024666.5
p.G158delFs
c.472delC
Surrounding Variants
6 papers
NM_024666.5
p.G158fs
c.472_473fs
1 paper
NM_024666.5
p.T157A
c.469A>G
10 papers
NM_024666.5
p.R161*
c.481C>T
1 paper
NM_024666.5
p.E155V
c.464A>T
1 paper
NM_024666.5
p.E155G
c.464A>G
1 paper
NM_024666.5
p.E155*
c.463G>T
1 paper
NM_024666.5
p.L166fs
c.496_497fs
2 papers
NM_024666.5
p.L166delFs
c.497delA
1 paper
NM_024666.5
p.N169fs
c.505_506fs
3 papers
NM_024666.5
p.N169insFs
c.506_507insAA
2 papers
NM_024666.5
p.W171*
c.512G>A
1 paper
NM_024666.5
p.V174V
c.522A>T
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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."