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.C19R

c.55T>C

Surrounding Variants

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.V13insFs

c.37_38ins4

1 paper

NM_198268.3

p.I26T

c.77T>C

1 paper

NM_198268.3

p.E27D

c.81G>C

1 paper

NM_198268.3

p.E27D

c.81G>T

1 paper

NM_198268.3

p.S29C

c.86C>G

1 paper

NM_198268.3

p.W31*

c.92G>A

1 paper

NM_198268.3

p.W31L

c.92G>T

2 papers

NM_198268.3

p.W31*

c.93G>A

1 paper

NM_198268.3

p.K41N

c.123A>C

1 paper

NM_198268.3

p.K41N

c.123A>T