Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.N181delFs

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
7 papers
NM_014911.5
p.N181delFs
c.541_542delTT
Surrounding Variants
1 paper
NM_014911.5
p.N211S
c.632A>G
1 paper
NM_014911.5
p.V213E
c.638T>A
1 paper
NM_014911.5
p.E216D
c.648G>T
1 paper
NM_014911.5
p.E216D
c.648G>C
1 paper
NM_014911.5
p.Y220*
c.660C>G
1 paper
NM_014911.5
p.Y220*
c.660C>A
1 paper
NM_014911.5
p.P228A
c.682C>G
1 paper
NM_014911.5
p.L233L
c.697C>T
1 paper
NM_014911.5
p.I239fs
c.715_716fs
1 paper
NM_014911.5
p.I239delFs
c.715delT
1 paper
NM_014911.5
p.G249R
c.745G>C
1 paper
NM_014911.5
p.G249R
c.745G>A
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