Varaico: Literature-Extracted Genetic Variants

Gene:AAK1
Variant:p.S637R

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.S637R
c.1911T>G
Surrounding Variants
1 paper
NM_014911.5
p.S637R
c.1911T>A
1 paper
NM_014911.5
p.S637R
c.1909A>C
1 paper
NM_014911.5
p.V639I
c.1915G>A
1 paper
NM_014911.5
p.V639fs
c.1915_1916fs
1 paper
NM_014911.5
p.V647A
c.1940T>C
1 paper
NM_014911.5
p.K626E
c.1876A>G
1 paper
NM_014911.5
p.G617E
c.1850G>A
3 papers
NM_014911.5
p.V603A
c.1808T>C
1 paper
NM_014911.5
p.P601P
c.1803A>T
1 paper
NM_014911.5
p.R598R
c.1794A>G
1 paper
NM_014911.5
p.V686I
c.2056G>A
1 paper
NM_014911.5
p.E691*
c.2071G>T
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