Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.T229I

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.T229I
c.686C>T
Surrounding Variants
1 paper
NM_024666.5
p.G225_A226insFs
c.675_676insCA
2 papers
NM_024666.5
p.G225S
c.673G>A
1 paper
NM_024666.5
p.R223W
c.667C>T
1 paper
NM_024666.5
p.V238A
c.713T>C
1 paper
NM_024666.5
p.S220P
c.658T>C
3 papers
NM_024666.5
p.A213delFs
c.639delT
1 paper
NM_024666.5
p.H209D
c.625C>G
1 paper
NM_024666.5
p.E206_Q207Splc
c.619-1G>A
2 papers
NM_024666.5
p.P205delFs
c.614delG
1 paper
NM_024666.5
p.P205fs
c.613_614fs
4 papers
NM_024666.5
p.A200_C203del4
c.598_608del12
1 paper
NM_024666.5
p.D201A
c.602A>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."