Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.I432fs

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.I432fs
c.1294_1295fs
Surrounding Variants
1 paper
NM_052947.4
p.I432delFs
c.1294_1295delAT
1 paper
NM_052947.4
p.M429T
c.1286T>C
1 paper
NM_052947.4
p.S442S
c.1326A>C
1 paper
NM_052947.4
p.H420H
c.1260C>T
1 paper
NM_052947.4
p.A457S
c.1369G>T
1 paper
NM_052947.4
p.A457V
c.1370C>T
1 paper
NM_052947.4
p.P463delFs
c.1388_1389delTG
1 paper
NM_052947.4
p.Q466*
c.1396C>T
1 paper
NM_052947.4
p.A398V
c.1193C>T
3 papers
NM_052947.4
p.T397I
c.1190C>T
1 paper
NM_052947.4
p.T469I
c.1406C>T
1 paper
NM_052947.4
p.S472R
c.1414A>C
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