Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.I969I

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.I969I
c.2907C>T
Surrounding Variants
1 paper
NM_025144.4
p.I969M
c.2907C>G
1 paper
NM_025144.4
p.R973fs
c.2917_2918fs
1 paper
NM_025144.4
p.R973H
c.2918G>A
1 paper
NM_025144.4
p.R973R
c.2919C>G
2 papers
NM_025144.4
p.P962L
c.2885C>T
1 paper
NM_025144.4
p.S960L
c.2879C>T
1 paper
NM_025144.4
p.S957Y
c.2870C>A
1 paper
NM_025144.4
p.L951R
c.2852T>G
1 paper
NM_025144.4
p.W991R
c.2971T>A
1 paper
NM_025144.4
p.W991R
c.2971T>C
1 paper
NM_025144.4
p.W991*
c.2972G>A
1 paper
NM_025144.4
p.W991*
c.2973G>A
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