Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.T507A

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.T507A
c.1519A>G
Surrounding Variants
7 papers
NM_014911.5
p.K509Q
c.1525A>C
1 paper
NM_014911.5
p.H504P
c.1511A>C
2 papers
NM_014911.5
p.A511G
c.1532C>G
1 paper
NM_014911.5
p.S519A
c.1555T>G
1 paper
NM_014911.5
p.Q524K
c.1570C>A
2 papers
NM_014911.5
p.Q526Q
c.1578G>A
1 paper
NM_014911.5
p.Q533H
c.1599G>C
1 paper
NM_014911.5
p.Q539_Q540ins1
c.1617_1618insCAG
2 papers
NM_014911.5
p.Q538_Q540del0
c.1614_1619del6
6 papers
NM_014911.5
p.Q541_Q542del1
c.1623_1625delTGT
1 paper
NM_014911.5
p.Q542del1
c.1624_1625delCTG
7 papers
NM_014911.5
p.Q541_Q542del2
c.1621_1625del6
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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."