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

2 papers

NM_006255.5

p.P629L

c.1886C>T

Surrounding Variants

1 paper

NM_006255.5

p.P630T

c.1888C>A

1 paper

NM_006255.5

p.I635F

c.1903A>T

1 paper

NM_006255.5

p.I617I

c.1851C>T

1 paper

NM_006255.5

p.G603*

c.1807G>T

1 paper

NM_006255.5

p.T594I

c.1781C>T

1 paper

NM_006255.5

p.I666F

c.1996A>T

1 paper

NM_006255.5

p.I666N

c.1997T>A

1 paper

NM_006255.5

p.P679Q

c.2036C>A

1 paper

NM_006255.5

p.L681S

c.2042T>C