Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.M249I

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.M249I
c.747G>C
Surrounding Variants
1 paper
NM_025144.4
p.M249I
c.747G>A
1 paper
NM_025144.4
p.M249I
c.747G>T
1 paper
NM_025144.4
p.D253N
c.757G>A
16 papers
NM_025144.4
p.Y254C
c.761A>G
1 paper
NM_025144.4
p.Y254F
c.761A>T
1 paper
NM_025144.4
p.D244E
c.732C>A
1 paper
NM_025144.4
p.D244N
c.730G>A
31 papers
NM_025144.4
p.T237M
c.710C>T
2 papers
NM_025144.4
p.T237A
c.709A>G
1 paper
NM_025144.4
p.N264insFs
c.790dupA
2 papers
NM_025144.4
p.A226V
c.677C>T
1 paper
NM_025144.4
p.I217L
c.649A>C
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