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.F498V

c.1492T>G

Surrounding Variants

1 paper

NM_006255.5

p.G499R

c.1495G>A

1 paper

NM_006255.5

p.G499R

c.1495G>C

1 paper

NM_006255.5

p.C501delFs

c.1503delC

1 paper

NM_006255.5

p.C501*

c.1503C>A

1 paper

NM_006255.5

p.G491C

c.1471G>T

2 papers

NM_006255.5

p.L482L

c.1444C>T

1 paper

NM_006255.5

p.F514L

c.1540T>C

1 paper

NM_006255.5

p.F514L

c.1542C>A

1 paper

NM_006255.5

p.F514L

c.1542C>G

1 paper

NM_006255.5

p.E524_I525Splc

c.1573-119C>G

1 paper

NM_006255.5

p.V542M

c.1624G>A

1 paper

NM_006255.5

p.Y545*

c.1635T>A