Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.R546Q

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.R546Q
c.1637G>A
Surrounding Variants
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.P559insFs
c.1677dupA
1 paper
NM_025144.4
p.S560fs
c.1678_1679fs
1 paper
NM_025144.4
p.L531L
c.1593C>G
1 paper
NM_025144.4
p.S563_N564insT
c.1687_1691ins3
2 papers
NM_025144.4
p.N564S
c.1691A>G
6 papers
NM_025144.4
p.G565D
c.1694G>A
1 paper
NM_025144.4
p.G565A
c.1694G>C
1 paper
NM_025144.4
p.Q578H
c.1734G>C
1 paper
NM_025144.4
p.Q578H
c.1734G>T
2 papers
NM_025144.4
p.H511Y
c.1531C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."