Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1

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
1–12 of 253 variants
31 papers
NM_025144.4
p.T237M
c.710C>T
16 papers
NM_025144.4
p.Y254C
c.761A>G
11 papers
NM_025144.4
p.V1092A
c.3275T>C
8 papers
NM_025144.4
p.S277F
c.830C>T
8 papers
NM_025144.4
p.M861T
c.2582T>C
6 papers
NM_025144.4
p.G565D
c.1694G>A
6 papers
NM_025144.4
p.M732I
c.2196G>A
6 papers
NM_025144.4
p.M732I
c.2196G>C
6 papers
NM_025144.4
p.M732I
c.2196G>T
5 papers
NM_025144.4
p.E910D
c.2730A>C
5 papers
NM_025144.4
p.E910D
c.2730A>T
5 papers
NM_025144.4
p.N916D
c.2746A>G
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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."