Varaico: Literature-Extracted Genetic Variants

PRKCH

121 papers

RefSeq Summary

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide v...

Pfam Domains

C2aa 10–124UCSCC2 domain

C1_1aa 172–225UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 246–298UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Pkinaseaa 355–614UCSCProtein kinase domain

Pkinase_Caa 635–676UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C eta

HGNC Previous Symbol

PRKCL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 77 variants

20 papers

NM_006255.5

p.V374I

c.1120G>A

5 papers

NM_006255.5

p.A19V

c.56C>T

4 papers

NM_006255.5

p.H211R

c.632A>G

2 papers

NM_006255.5

p.K65R

c.194A>G

2 papers

NM_006255.5

p.V130V

c.390A>G

2 papers

NM_006255.5

p.R149Q

c.446G>A

2 papers

NM_006255.5

p.D232G

c.695A>G

2 papers

NM_006255.5

p.D394G

c.1181A>G

2 papers

NM_006255.5

p.A410S

c.1228G>T

2 papers

NM_006255.5

p.L482L

c.1444C>T

2 papers

NM_006255.5

p.P629L

c.1886C>T

1 paper

NM_006255.5

p.M1R

c.2T>G