Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.S311P

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
2 papers
NM_014911.5
p.S311P
c.931T>C
Surrounding Variants
1 paper
NM_014911.5
p.P302L
c.905C>T
1 paper
NM_014911.5
p.P320S
c.958C>T
1 paper
NM_014911.5
p.R301G
c.901A>G
1 paper
NM_014911.5
p.P298ins3
c.892_893ins9
1 paper
NM_014911.5
p.P328H
c.983C>A
1 paper
NM_014911.5
p.P336T
c.1006C>A
1 paper
NM_014911.5
p.R291Splc
c.871+143C>T
1 paper
NM_014911.5
p.L251V
c.751T>G
1 paper
NM_014911.5
p.G249R
c.745G>C
1 paper
NM_014911.5
p.G249R
c.745G>A
1 paper
NM_014911.5
p.I239delFs
c.715delT
1 paper
NM_014911.5
p.I239fs
c.715_716fs
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."