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

3 papers

NM_002741.5

p.L555I

c.1663C>A

Surrounding Variants

1 paper

NM_002741.5

p.S562*

c.1685C>A

1 paper

NM_002741.5

p.S562*

c.1685C>G

1 paper

NM_002741.5

p.Q564*

c.1690C>T

1 paper

NM_002741.5

p.R568Q

c.1703G>A

2 papers

NM_002741.5

p.R543Q

c.1628G>A

1 paper

NM_002741.5

p.E588K

c.1762G>A

1 paper

NM_002741.5

p.E588A

c.1763A>C

1 paper

NM_002741.5

p.L601Q

c.1802T>A

1 paper

NM_002741.5

p.L610V

c.1828C>G

1 paper

NM_002741.5

p.L610P

c.1829T>C

1 paper

NM_002741.5

p.R623Q

c.1868G>A

1 paper

NM_002741.5

p.R635Q

c.1904G>A