Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.L12_C13delFs

ALPK2

191 papers

Pfam Domains

I-setaa 13–104UCSCImmunoglobulin I-set domain
I-setaa 1793–1875UCSCImmunoglobulin I-set domain
Alpha_kinaseaa 1926–2125UCSCAlpha-kinase family

Gene Aliases

HGNC Name

alpha kinase 2

HGNC Alias Symbol

HAK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052947.4
p.L12_C13delFs
c.36_37delAC
Surrounding Variants
1 paper
NM_052947.4
p.F14V
c.40T>G
1 paper
NM_052947.4
p.L18S
c.53T>C
1 paper
NM_052947.4
p.G6R
c.16G>A
5 papers
NM_052947.4
p.K2T
c.5A>C
1 paper
NM_052947.4
p.M1I
c.3G>A
1 paper
NM_052947.4
p.D28A
c.83A>C
1 paper
NM_052947.4
p.A29V
c.86C>T
1 paper
NM_052947.4
p.Y61Y
c.183T>C
1 paper
NM_052947.4
p.L74F
c.220C>T
1 paper
NM_052947.4
p.C76Splc
c.227+673T>G
1 paper
NM_052947.4
p.C76Splc
c.227+725T>C
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