Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.S277F

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
8 papers
NM_025144.4
p.S277F
c.830C>T
Surrounding Variants
1 paper
NM_025144.4
p.S277A
c.829T>G
1 paper
NM_025144.4
p.A281G
c.842C>G
1 paper
NM_025144.4
p.K269E
c.805A>G
1 paper
NM_025144.4
p.L267L
c.801G>T
1 paper
NM_025144.4
p.A290G
c.869C>G
1 paper
NM_025144.4
p.T292M
c.875C>T
1 paper
NM_025144.4
p.V296M
c.886G>A
1 paper
NM_025144.4
p.R303H
c.908G>A
1 paper
NM_025144.4
p.G304C
c.910G>T
1 paper
NM_025144.4
p.T305insFs
c.913_914insA
1 paper
NM_025144.4
p.T305A
c.913A>G
1 paper
NM_025144.4
p.S312delFs
c.934delA
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."