Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.M732I

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
6 papers
NM_025144.4
p.M732I
c.2196G>C
Surrounding Variants
6 papers
NM_025144.4
p.M732I
c.2196G>A
6 papers
NM_025144.4
p.M732I
c.2196G>T
1 paper
NM_025144.4
p.P729_K730ins7
c.2187_2188ins21
1 paper
NM_025144.4
p.V738A
c.2213T>C
1 paper
NM_025144.4
p.V738V
c.2214C>T
1 paper
NM_025144.4
p.S724S
c.2172T>C
1 paper
NM_025144.4
p.S721T
c.2161T>A
1 paper
NM_025144.4
p.R718L
c.2153G>T
1 paper
NM_025144.4
p.E749K
c.2245G>A
1 paper
NM_025144.4
p.D756N
c.2266G>A
1 paper
NM_025144.4
p.D756A
c.2267A>C
1 paper
NM_025144.4
p.R760G
c.2278A>G
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