Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.S398I

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.S398I
c.1193G>T
Surrounding Variants
1 paper
NM_025144.4
p.A403_L404insFs
c.1209_1210insT
1 paper
NM_025144.4
p.S405delFs
c.1215delT
1 paper
NM_025144.4
p.E384A
c.1151A>C
1 paper
NM_025144.4
p.A413T
c.1237G>A
1 paper
NM_025144.4
p.K383N
c.1149G>T
2 papers
NM_025144.4
p.K383E
c.1147A>G
1 paper
NM_025144.4
p.K416R
c.1247A>G
1 paper
NM_025144.4
p.Q380*
c.1138C>T
1 paper
NM_025144.4
p.V375V
c.1125C>T
2 papers
NM_025144.4
p.V421I
c.1261G>A
1 paper
NM_025144.4
p.L361_T362delFs
c.1081_1085del5
1 paper
NM_025144.4
p.E438K
c.1312G>A
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