Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.H642R

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
3 papers
NM_025144.4
p.H642R
c.1925A>G
Surrounding Variants
1 paper
NM_025144.4
p.H646H
c.1938T>C
1 paper
NM_025144.4
p.L650insFs
c.1948_1949dupCT
1 paper
NM_025144.4
p.E628D
c.1884G>C
1 paper
NM_025144.4
p.E628D
c.1884G>T
1 paper
NM_025144.4
p.E627fs
c.1879_1880fs
1 paper
NM_025144.4
p.E627delFs
c.1879delG
3 papers
NM_025144.4
p.P660L
c.1979C>T
1 paper
NM_025144.4
p.Q662*
c.1984C>T
1 paper
NM_025144.4
p.L671_T672del1
c.2013_2015delGAC
1 paper
NM_025144.4
p.G612D
c.1835G>A
1 paper
NM_025144.4
p.D604N
c.1810G>A
1 paper
NM_025144.4
p.G681D
c.2042G>A
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