Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.G304C

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.G304C
c.910G>T
Surrounding Variants
1 paper
NM_025144.4
p.T305insFs
c.913_914insA
1 paper
NM_025144.4
p.R303H
c.908G>A
1 paper
NM_025144.4
p.T305A
c.913A>G
1 paper
NM_025144.4
p.S312delFs
c.934delA
1 paper
NM_025144.4
p.C316S
c.946T>A
1 paper
NM_025144.4
p.C316Y
c.947G>A
1 paper
NM_025144.4
p.C316S
c.947G>C
1 paper
NM_025144.4
p.E319*
c.955G>T
1 paper
NM_025144.4
p.L325L
c.975G>A
1 paper
NM_025144.4
p.G335D
c.1004G>A
1 paper
NM_025144.4
p.L337F
c.1009C>T
3 papers
NM_025144.4
p.D342H
c.1024G>C
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