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.D131Y

c.391G>T

Surrounding Variants

1 paper

NM_198268.3

p.Q119R

c.356A>G

1 paper

NM_198268.3

p.G154A

c.461G>C

1 paper

NM_198268.3

p.T160T

c.480C>T

1 paper

NM_198268.3

p.T163_T164insFs

c.489_490ins5

1 paper

NM_198268.3

p.G93A

c.278G>C

2 papers

NM_198268.3

p.H180Q

c.540T>A

2 papers

NM_198268.3

p.H180Q

c.540T>G

1 paper

NM_198268.3

p.P79A

c.235C>G

1 paper

NM_198268.3

p.L76L

c.228C>T

2 papers

NM_198268.3

p.L74R

c.221T>G

1 paper

NM_198268.3

p.D71_L75del5

c.211_224del15

1 paper

NM_198268.3

p.N66T

c.197A>C