Varaico: Literature-Extracted Genetic Variants

Gene:HIPK1
Variant:p.G995V

HIPK1

112 papers

RefSeq Summary

The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for ho...

Pfam Domains

Pkinaseaa 190–518UCSCProtein kinase domain
Pkinaseaa 190–518UCSCProtein kinase domain

Gene Aliases

HGNC Name

homeodomain interacting protein kinase 1

HGNC Alias Symbols

KIAA0630; Myak; MGC26642; Nbak2; MGC33446; MGC33548

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198268.3
p.G995V
c.2984G>T
Surrounding Variants
1 paper
NM_198268.3
p.G979A
c.2936G>C
1 paper
NM_198268.3
p.R962*
c.2884C>T
1 paper
NM_198268.3
p.T957A
c.2869A>G
1 paper
NM_198268.3
p.T907S
c.2720C>G
1 paper
NM_198268.3
p.T907S
c.2719A>T
1 paper
NM_198268.3
p.Q889E
c.2665C>G
1 paper
NM_198268.3
p.L858R
c.2573T>G
1 paper
NM_198268.3
p.P1028del1
c.3082_3084delCCC
1 paper
NM_198268.3
p.R1032Q
c.3095G>A
2 papers
NM_198268.3
p.R1035R
c.3105C>T
1 paper
NM_198268.3
p.K847E
c.2539A>G
1 paper
NM_198268.3
p.S843L
c.2528C>T
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