Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.E1500Splc

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.E1500Splc
c.4500-2A>G
Surrounding Variants
1 paper
NM_020778.5
p.E1500Splc
c.4500-2A>T
1 paper
NM_020778.5
p.E1500Splc
c.4500-1G>A
1 paper
NM_020778.5
p.I1501fs
c.4501_4502fs
2 papers
NM_020778.5
p.E1500Splc
c.4500-12A>G
1 paper
NM_020778.5
p.L1504_Y1505del2
c.4510_4514del6
1 paper
NM_020778.5
p.R1509W
c.4525C>T
1 paper
NM_020778.5
p.P1515S
c.4543C>T
2 papers
NM_020778.5
p.P1526S
c.4576C>T
1 paper
NM_020778.5
p.C1531_S1532del2
c.4591_4595del6
1 paper
NM_020778.5
p.E1548G
c.4643A>G
1 paper
NM_020778.5
p.W1559C
c.4677G>C
1 paper
NM_020778.5
p.W1559C
c.4677G>T
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