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

Selected Variant

1 paper

NM_006255.5

p.I192N

c.575T>A

Surrounding Variants

1 paper

NM_006255.5

p.C188Y

c.563G>A

1 paper

NM_006255.5

p.R164T

c.491G>C

1 paper

NM_006255.5

p.R163*

c.487C>T

2 papers

NM_006255.5

p.R149Q

c.446G>A

1 paper

NM_006255.5

p.K198N

c.594A>C

1 paper

NM_006255.5

p.K198N

c.594A>T

4 papers

NM_006255.5

p.H211R

c.632A>G

2 papers

NM_006255.5

p.D232G

c.695A>G

1 paper

NM_006255.5

p.I242fs

c.724_725fs

1 paper

NM_006255.5

p.T257fs

c.769_770fs

1 paper

NM_006255.5

p.H261L

c.782A>T