Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.P424A

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.P424A
c.1270C>G
Surrounding Variants
1 paper
NM_014911.5
p.S425fs
c.1273_1274fs
1 paper
NM_014911.5
p.P409S
c.1225C>T
1 paper
NM_014911.5
p.T441A
c.1321A>G
1 paper
NM_014911.5
p.S447A
c.1339T>G
1 paper
NM_014911.5
p.T448A
c.1342A>G
2 papers
NM_014911.5
p.A481P
c.1441G>C
2 papers
NM_014911.5
p.R391Q
c.1172G>A
1 paper
NM_014911.5
p.Q376H
c.1128G>T
1 paper
NM_014911.5
p.Q376H
c.1128G>C
1 paper
NM_014911.5
p.T375S
c.1124C>G
1 paper
NM_014911.5
p.T375S
c.1123A>T
1 paper
NM_014911.5
p.P366A
c.1096C>G
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