Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.E496*

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.E496*
c.1486G>T
Surrounding Variants
2 papers
NM_025144.4
p.A492S
c.1474G>T
2 papers
NM_025144.4
p.G487E
c.1460G>A
1 paper
NM_025144.4
p.E508Q
c.1522G>C
2 papers
NM_025144.4
p.H511Y
c.1531C>T
1 paper
NM_025144.4
p.C467F
c.1400G>T
1 paper
NM_025144.4
p.H463H
c.1389T>C
1 paper
NM_025144.4
p.L531L
c.1593C>G
1 paper
NM_025144.4
p.Q453K
c.1357C>A
1 paper
NM_025144.4
p.R546Q
c.1637G>A
1 paper
NM_025144.4
p.D550N
c.1648G>A
1 paper
NM_025144.4
p.Q551*
c.1651C>T
1 paper
NM_025144.4
p.E438K
c.1312G>A
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