Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.I1104T

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.I1104T
c.3311T>C
Surrounding Variants
1 paper
NM_025144.4
p.N1096N
c.3288C>T
1 paper
NM_025144.4
p.P1112R
c.3335C>G
1 paper
NM_025144.4
p.T1093R
c.3278C>G
11 papers
NM_025144.4
p.V1092A
c.3275T>C
1 paper
NM_025144.4
p.L1117P
c.3350T>C
1 paper
NM_025144.4
p.H1090H
c.3270C>T
1 paper
NM_025144.4
p.H1090R
c.3269A>G
1 paper
NM_025144.4
p.M1086I
c.3258G>A
1 paper
NM_025144.4
p.M1086I
c.3258G>C
1 paper
NM_025144.4
p.M1086I
c.3258G>T
1 paper
NM_025144.4
p.R1084Q
c.3251G>A
1 paper
NM_025144.4
p.R1084*
c.3250C>T
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