Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.V522M

ALPK3

240 papers

Pfam Domains

I-setaa 77–169UCSCImmunoglobulin I-set domain
Alpha_kinaseaa 1418–1617UCSCAlpha-kinase family

Gene Aliases

HGNC Name

alpha kinase 3

HGNC Alias Symbols

KIAA1330; Midori

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020778.5
p.V522M
c.1564G>A
Surrounding Variants
1 paper
NM_020778.5
p.P517A
c.1549C>G
1 paper
NM_020778.5
p.P517insFs
c.1550dupC
1 paper
NM_020778.5
p.A516fs
c.1546_1547fs
1 paper
NM_020778.5
p.G514E
c.1541G>A
1 paper
NM_020778.5
p.R532*
c.1594A>T
1 paper
NM_020778.5
p.H533_G534insFs
c.1599_1600insT
1 paper
NM_020778.5
p.H533R
c.1598A>G
1 paper
NM_020778.5
p.Q511delFs
c.1531_1532delCA
1 paper
NM_020778.5
p.G534fs
c.1600_1601fs
2 papers
NM_020778.5
p.R536Q
c.1607G>A
1 paper
NM_020778.5
p.T539M
c.1616C>T
1 paper
NM_020778.5
p.Q541R
c.1622A>G
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