Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.P771R

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
4 papers
NM_014911.5
p.P771R
c.2312C>G
Surrounding Variants
1 paper
NM_014911.5
p.V766delFs
c.2297_2298delCA
1 paper
NM_014911.5
p.V766fs
c.2296_2297fs
2 papers
NM_014911.5
p.R760R
c.2280G>A
1 paper
NM_014911.5
p.E789*
c.2365G>T
1 paper
NM_014911.5
p.T750I
c.2249C>T
1 paper
NM_014911.5
p.T749M
c.2246C>T
1 paper
NM_014911.5
p.G730R
c.2188G>C
1 paper
NM_014911.5
p.E726*
c.2176G>T
1 paper
NM_014911.5
p.E726K
c.2176G>A
1 paper
NM_014911.5
p.P725T
c.2173C>A
1 paper
NM_014911.5
p.G722R
c.2164G>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."