Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.S942fs

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.S942fs
c.2824_2825fs
Surrounding Variants
2 papers
NM_025144.4
p.S942del1
c.2824_2825delTCT
1 paper
NM_025144.4
p.G944R
c.2830G>A
1 paper
NM_025144.4
p.G944R
c.2830G>C
1 paper
NM_025144.4
p.S938fs
c.2812_2813fs
1 paper
NM_025144.4
p.S938delFs
c.2812delT
1 paper
NM_025144.4
p.S934*
c.2801C>A
1 paper
NM_025144.4
p.S934*
c.2801C>G
1 paper
NM_025144.4
p.L951R
c.2852T>G
1 paper
NM_025144.4
p.S957Y
c.2870C>A
3 papers
NM_025144.4
p.S924P
c.2770T>C
NM_001253884.2
p.S846P
c.2536T>C
1 paper
NM_025144.4
p.S960L
c.2879C>T
2 papers
NM_025144.4
p.P962L
c.2885C>T
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