Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.W125C

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.W125C
c.375G>C
Surrounding Variants
1 paper
NM_052947.4
p.W125C
c.375G>T
1 paper
NM_052947.4
p.R123R
c.369G>A
2 papers
NM_052947.4
p.E135D
c.405A>T
2 papers
NM_052947.4
p.E135D
c.405A>C
4 papers
NM_052947.4
p.R136S
c.408G>T
4 papers
NM_052947.4
p.R136S
c.408G>C
1 paper
NM_052947.4
p.E144K
c.430G>A
1 paper
NM_052947.4
p.E151K
c.451G>A
1 paper
NM_052947.4
p.I96del1
c.286_288delGAT
2 papers
NM_052947.4
p.S88L
c.263C>T
1 paper
NM_052947.4
p.S164P
c.490T>C
1 paper
NM_052947.4
p.P165fs
c.493_494fs
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