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

1–12 of 95 variants

3 papers

NM_002741.5

p.S260T

c.778T>A

3 papers

NM_002741.5

p.L555I

c.1663C>A

3 papers

NM_002741.5

p.K644E

c.1930A>G

3 papers

NM_002741.5

p.T778A

c.2332A>G

2 papers

NM_002741.5

p.E216K

c.646G>A

2 papers

NM_002741.5

p.R543Q

c.1628G>A

2 papers

NM_002741.5

p.I718V

c.2152A>G

2 papers

NM_002741.5

p.P917L

c.2750C>T

2 papers

NM_002741.5

p.A921V

c.2762C>T

2 papers

NM_002741.5

p.L924L

c.2772C>T

1 paper

NM_002741.5

p.M1L

c.1A>C

1 paper

NM_002741.5

p.M1L

c.1A>T