Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.R124*

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
20 papers
NM_024666.5
p.R124*
c.370C>T
Surrounding Variants
1 paper
NM_024666.5
p.G121A
c.362G>C
1 paper
NM_024666.5
p.Q128K
c.382C>A
1 paper
NM_024666.5
p.W130*
c.389G>A
4 papers
NM_024666.5
p.W130*
c.390G>A
4 papers
NM_024666.5
p.I132L
c.394A>C
5 papers
NM_024666.5
p.V139I
c.415G>A
3 papers
NM_024666.5
p.E144K
c.430G>A
1 paper
NM_024666.5
p.E148V
c.443A>T
1 paper
NM_024666.5
p.E148A
c.443A>C
6 papers
NM_024666.5
p.D151Splc
c.451+1G>A
1 paper
NM_024666.5
p.G121Splc
c.361+2T>C
1 paper
NM_024666.5
p.D120E
c.360T>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."