Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.A516V

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.A516V
c.1547C>T
Surrounding Variants
1 paper
NM_052947.4
p.T514M
c.1541C>T
1 paper
NM_052947.4
p.K523fs
c.1567_1568fs
1 paper
NM_052947.4
p.G522delFs
c.1565_1566delTC
1 paper
NM_052947.4
p.K518_G522delFs
c.1552_1565del14
3 papers
NM_052947.4
p.K523fs
c.1567_1568fs
1 paper
NM_052947.4
p.K523delFs
c.1568delT
1 paper
NM_052947.4
p.R519_K523delFs
c.1555_1568del14
1 paper
NM_052947.4
p.S509_Q510ins4
c.1525_1529ins12
1 paper
NM_052947.4
p.T494I
c.1481C>T
1 paper
NM_052947.4
p.P540S
c.1618C>T
1 paper
NM_052947.4
p.P540L
c.1619C>T
1 paper
NM_052947.4
p.P546T
c.1636C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."