Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.A593T

ALPK1

191 papers

RefSeq Summary

This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoform...

Pfam Domains

Alpha_kinaseaa 1042–1229UCSCAlpha-kinase family

Gene Aliases

HGNC Name

alpha kinase 1

HGNC Alias Symbols

Lak; FLJ22670; KIAA1527

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025144.4
p.A593T
c.1777G>A
Surrounding Variants
1 paper
NM_025144.4
p.W595*
c.1785G>A
1 paper
NM_025144.4
p.E596*
c.1786G>T
1 paper
NM_025144.4
p.N599H
c.1795A>C
1 paper
NM_025144.4
p.L586I
c.1756T>A
2 papers
NM_025144.4
p.A582V
c.1745C>T
1 paper
NM_025144.4
p.D604N
c.1810G>A
1 paper
NM_025144.4
p.Q578H
c.1734G>C
1 paper
NM_025144.4
p.Q578H
c.1734G>T
1 paper
NM_025144.4
p.G612D
c.1835G>A
6 papers
NM_025144.4
p.G565D
c.1694G>A
1 paper
NM_025144.4
p.G565A
c.1694G>C
2 papers
NM_025144.4
p.N564S
c.1691A>G
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