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

1–12 of 110 variants

4 papers

NM_198268.3

p.D315N

c.943G>A

2 papers

NM_198268.3

p.W31*

c.93G>A

2 papers

NM_198268.3

p.L74R

c.221T>G

2 papers

NM_198268.3

p.H180Q

c.540T>A

2 papers

NM_198268.3

p.H180Q

c.540T>G

2 papers

NM_198268.3

p.R1035R

c.3105C>T

1 paper

NM_198268.3

p.V13insFs

c.37_38ins4

1 paper

NM_198268.3

p.C19R

c.55T>C

1 paper

NM_198268.3

p.C19insFs

c.56_57ins13

1 paper

NM_198268.3

p.L24_K25delFs

c.71_75del5

1 paper

NM_198268.3

p.I26T

c.77T>C

1 paper

NM_198268.3

p.E27D

c.81G>C