Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.S1012Splc

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.S1012Splc
c.3034+1G>A
Surrounding Variants
2 papers
NM_025144.4
p.A1010T
c.3028G>A
1 paper
NM_025144.4
p.R1009G
c.3025C>G
1 paper
NM_001253884.2
p.F924L
c.2770T>C
1 paper
NM_025144.4
p.G1000E
c.2999G>A
1 paper
NM_025144.4
p.G1000V
c.2999G>T
1 paper
NM_025144.4
p.G1000R
c.2998G>A
1 paper
NM_025144.4
p.G1000R
c.2998G>C
1 paper
NM_025144.4
p.W991*
c.2973G>A
1 paper
NM_025144.4
p.W991*
c.2972G>A
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.R973R
c.2919C>G
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