Varaico: Literature-Extracted Genetic Variants

PKN1

137 papers

RefSeq Summary

The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinas...

Pfam Domains

HR1aa 38–102UCSCHr1 repeat

HR1aa 127–196UCSCHr1 repeat

HR1aa 214–281UCSCHr1 repeat

Pkinaseaa 615–874UCSCProtein kinase domain

Pkinase_Caa 895–937UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase N1

HGNC Previous Symbol

PRKCL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002741.5

p.E216K

c.646G>A

Surrounding Variants

1 paper

NM_002741.5

p.E217*

c.649G>T

1 paper

NM_002741.5

p.E230K

c.688G>A

1 paper

NM_002741.5

p.L257L

c.771A>G

3 papers

NM_002741.5

p.S260T

c.778T>A

1 paper

NM_002741.5

p.P283H

c.848C>A

1 paper

NM_002741.5

p.A298T

c.892G>A

1 paper

NM_002741.5

p.R303C

c.907C>T

1 paper

NM_002741.5

p.A320A

c.960G>A

1 paper

NM_002741.5

p.L326L

c.978G>A

1 paper

NM_002741.5

p.E327G

c.980A>G

1 paper

NM_002741.5

p.V328A

c.983T>C

1 paper

NM_002741.5

p.R334*

c.1000A>T