Varaico: Literature-Extracted Genetic Variants

Gene:HIPK2
Variant:p.K49I

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
1 paper
NM_022740.5
p.K49I
c.146A>T
Surrounding Variants
1 paper
NM_022740.5
p.V50V
c.150G>T
1 paper
NM_022740.5
p.Y51F
c.152A>T
2 papers
NM_022740.5
p.S46A
c.136T>G
1 paper
NM_022740.5
p.L59fs
c.175_176fs
2 papers
NM_022740.5
p.Q61K
c.181C>A
1 paper
NM_022740.5
p.Q61L
c.182A>T
1 paper
NM_022740.5
p.Q61R
c.182A>G
1 paper
NM_022740.5
p.Q61H
c.183G>T
1 paper
NM_022740.5
p.Q61H
c.183G>C
1 paper
NM_022740.5
p.P35L
c.104C>T
1 paper
NM_022740.5
p.T65S
c.193A>T
1 paper
NM_022740.5
p.K32N
c.96A>T
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