Varaico: Literature-Extracted Genetic Variants

Gene:HIPK2
Variant:p.R554Q

HIPK2

170 papers

RefSeq Summary

This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and ma...

Pfam Domains

Pkinaseaa 199–527UCSCProtein kinase domain

Gene Aliases

HGNC Name

homeodomain interacting protein kinase 2

HGNC Previous Name

homeodomain-interacting protein kinase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022740.5
p.R554Q
c.1661G>A
Surrounding Variants
1 paper
NM_022740.5
p.V561M
c.1681G>A
1 paper
NM_022740.5
p.K565T
c.1694A>C
1 paper
NM_022740.5
p.T566P
c.1696A>C
1 paper
NM_022740.5
p.V541I
c.1621G>A
1 paper
NM_022740.5
p.T583T
c.1749C>G
1 paper
NM_022740.5
p.T602P
c.1804A>C
1 paper
NM_022740.5
p.E609K
c.1825G>A
1 paper
NM_022740.5
p.D534N
c.1600G>A
1 paper
NM_022740.5
p.P525A
c.1573C>G
1 paper
NM_022740.5
p.M627fs
c.1879_1880fs
1 paper
NM_022740.5
p.I519V
c.1555A>G
1 paper
NM_022740.5
p.D513fs
c.1537_1538fs
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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."