Varaico: Literature-Extracted Genetic Variants

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

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.Q298*

c.892C>T

Surrounding Variants

1 paper

NM_198268.3

p.K307K

c.921G>A

1 paper

NM_198268.3

p.L287L

c.861G>A

1 paper

NM_198268.3

p.G310C

c.928G>T

1 paper

NM_198268.3

p.A314T

c.940G>A

4 papers

NM_198268.3

p.D315N

c.943G>A

1 paper

NM_198268.3

p.N320insFs

c.958_959insTG

1 paper

NM_198268.3

p.I321fs

c.961_962fs

1 paper

NM_198268.3

p.T264I

c.791C>T

1 paper

NM_198268.3

p.D337H

c.1009G>C

1 paper

NM_198268.3

p.S254L

c.761C>T

1 paper

NM_198268.3

p.R253C

c.757C>T

1 paper

NM_198268.3

p.H343delFs

c.1028delA