Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.L1296V

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.L1296V
c.3886T>G
Surrounding Variants
1 paper
NM_052947.4
p.A1289D
c.3866C>A
1 paper
NM_052947.4
p.L1288S
c.3863T>C
1 paper
NM_052947.4
p.I1321fs
c.3961_3962fs
1 paper
NM_052947.4
p.I1321delFs
c.3963delG
1 paper
NM_052947.4
p.G1264S
c.3790G>A
1 paper
NM_052947.4
p.P1336S
c.4006C>T
1 paper
NM_052947.4
p.Q1253E
c.3757C>G
1 paper
NM_052947.4
p.R1252*
c.3754C>T
1 paper
NM_052947.4
p.S1356S
c.4068A>G
1 paper
NM_052947.4
p.N1234K
c.3702C>G
1 paper
NM_052947.4
p.N1234K
c.3702C>A
1 paper
NM_052947.4
p.E1367K
c.4099G>A
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