Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.V82L

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.V82L
c.244G>C
Surrounding Variants
4 papers
NM_024666.5
p.Y83Y
c.249C>T
3 papers
NM_024666.5
p.Y83*
c.249C>G
2 papers
NM_024666.5
p.Y83*
c.249C>A
1 paper
NM_024666.5
p.D85N
c.253G>A
3 papers
NM_024666.5
p.Q88*
c.262C>T
1 paper
NM_024666.5
p.Q88insFs
c.263_264insTC
1 paper
NM_024666.5
p.A71E
c.212C>A
4 papers
NM_024666.5
p.F67_L68delFs
c.200_203del4
3 papers
NM_024666.5
p.F67fs
c.199_200fs
6 papers
NM_024666.5
p.P64_N65delFs
c.191_194del4
2 papers
NM_024666.5
p.K66fs
c.196_197fs
1 paper
NM_024666.5
p.V63L
c.187G>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."