Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.L99insFs

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
3 papers
NM_024666.5
p.L99insFs
c.295_296insG
Surrounding Variants
1 paper
NM_024666.5
p.L99fs
c.295_296fs
1 paper
NM_024666.5
p.S97A
c.289T>G
1 paper
NM_024666.5
p.S96F
c.287C>T
1 paper
NM_024666.5
p.S96T
c.286T>A
1 paper
NM_024666.5
p.D93insFs
c.278_279insT
4 papers
NM_024666.5
p.L92delFs
c.275delA
1 paper
NM_024666.5
p.W105fs
c.313_314fs
1 paper
NM_024666.5
p.L92P
c.275T>C
1 paper
NM_024666.5
p.W105*
c.315G>A
3 papers
NM_024666.5
p.W105_L106delFs
c.313_317del5
1 paper
NM_024666.5
p.G91S
c.271G>A
1 paper
NM_024666.5
p.E108E
c.324G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."