Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.S323L

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.S323L
c.968C>T
Surrounding Variants
1 paper
NM_052947.4
p.S323delFs
c.967delA
1 paper
NM_052947.4
p.S323S
c.969A>T
1 paper
NM_052947.4
p.S323fs
c.967_968fs
1 paper
NM_052947.4
p.Y329C
c.986A>G
1 paper
NM_052947.4
p.M336I
c.1008G>T
1 paper
NM_052947.4
p.M336I
c.1008G>C
1 paper
NM_052947.4
p.M336I
c.1008G>A
1 paper
NM_052947.4
p.M336_T337del1
c.1007_1009delTCA
7 papers
NM_052947.4
p.M336_T337del0
c.1006_1011del6
1 paper
NM_052947.4
p.R346M
c.1037G>T
1 paper
NM_052947.4
p.N347D
c.1039A>G
1 paper
NM_052947.4
p.Q298*
c.892C>T
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