Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.T494I

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.T494I
c.1481C>T
Surrounding Variants
1 paper
NM_052947.4
p.S509_Q510ins4
c.1525_1529ins12
2 papers
NM_052947.4
p.E477V
c.1430A>T
1 paper
NM_052947.4
p.A475E
c.1424C>A
1 paper
NM_052947.4
p.T514M
c.1541C>T
1 paper
NM_052947.4
p.S472R
c.1416C>G
1 paper
NM_052947.4
p.S472R
c.1416C>A
1 paper
NM_052947.4
p.A516V
c.1547C>T
1 paper
NM_052947.4
p.S472R
c.1414A>C
1 paper
NM_052947.4
p.T469I
c.1406C>T
1 paper
NM_052947.4
p.Q466*
c.1396C>T
1 paper
NM_052947.4
p.K523fs
c.1567_1568fs
1 paper
NM_052947.4
p.G522delFs
c.1565_1566delTC
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