Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.N102D

AAK1

130 papers

RefSeq Summary

This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clath...

Pfam Domains

Pkinaseaa 46–312UCSCProtein kinase domain

Gene Aliases

HGNC Name

AP2 associated kinase 1

HGNC Alias Symbols

KIAA1048; DKFZp686K16132

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014911.5
p.N102D
c.304A>G
Surrounding Variants
1 paper
NM_014911.5
p.G99V
c.296G>T
2 papers
NM_014911.5
p.G105G
c.315T>A
1 paper
NM_014911.5
p.V114M
c.340G>A
1 paper
NM_014911.5
p.G117S
c.349G>A
1 paper
NM_014911.5
p.V134L
c.400G>T
1 paper
NM_014911.5
p.V134L
c.400G>C
1 paper
NM_014911.5
p.Q140*
c.418C>T
1 paper
NM_014911.5
p.R141C
c.421C>T
1 paper
NM_014911.5
p.T170P
c.508A>C
1 paper
NM_014911.5
p.I172L
c.514A>C
2 papers
NM_014911.5
p.D176A
c.527A>C
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."