Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.R220L

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.R220L
c.659G>T
Surrounding Variants
1 paper
NM_020778.5
p.R220S
c.658C>A
1 paper
NM_020778.5
p.R220G
c.658C>G
1 paper
NM_020778.5
p.R220C
c.658C>T
1 paper
NM_020778.5
p.F221delFs
c.661delT
1 paper
NM_020778.5
p.D219Y
c.655G>T
1 paper
NM_020778.5
p.P218T
c.652C>A
1 paper
NM_020778.5
p.R223L
c.668G>T
1 paper
NM_020778.5
p.L216_S217delFs
c.646_649del4
2 papers
NM_020778.5
p.R226*
c.676C>T
6 papers
NM_020778.5
p.L213L
c.639G>A
1 paper
NM_020778.5
p.L213R
c.638T>G
1 paper
NM_020778.5
p.L213fs
c.637_638fs
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