Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.R116_V117delFs

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
7 papers
NM_024666.5
p.R116_V117delFs
c.348_349delCT
Surrounding Variants
2 papers
NM_024666.5
p.S118fs
c.352_353fs
2 papers
NM_024666.5
p.L112_D115delFs
c.335_345del11
4 papers
NM_024666.5
p.R116fs
c.346_347fs
7 papers
NM_024666.5
p.D115delFs
c.344delT
1 paper
NM_024666.5
p.S118_E119delFs
c.352_355del4
5 papers
NM_024666.5
p.D115fs
c.343_344fs
1 paper
NM_024666.5
p.D120E
c.360T>G
2 papers
NM_024666.5
p.D120E
c.360T>A
1 paper
NM_024666.5
p.G121Splc
c.361+2T>C
2 papers
NM_024666.5
p.M110K
c.329T>A
1 paper
NM_024666.5
p.V109M
c.325G>A
1 paper
NM_024666.5
p.E108E
c.324G>A
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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."