Varaico: Literature-Extracted Genetic Variants

PRKCE

136 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 6–119UCSCC2 domain

C1_1aa 170–223UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 243–295UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Pkinaseaa 408–668UCSCProtein kinase domain

Pkinase_Caa 689–730UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C epsilon

HGNC Previous Name

protein kinase C, epsilon

Papers

RefSeq ID

Protein change

DNA change

1–12 of 115 variants

5 papers

NM_005400.3

p.R510Q

c.1529G>A

4 papers

NM_005400.3

p.T563M

c.1688C>T

4 papers

NM_005400.3

p.E599K

c.1795G>A

2 papers

NM_005400.3

p.E14K

c.40G>A

2 papers

NM_005400.3

p.W116_I117Splc

c.349-45927T>C

2 papers

NM_005400.3

p.R268W

c.802C>T

2 papers

NM_005400.3

p.S368A

c.1102T>G

2 papers

NM_005400.3

p.K437M

c.1310A>T

2 papers

NM_005400.3

p.R500C

c.1498C>T

2 papers

NM_005400.3

p.H524H

c.1572C>T

2 papers

NM_005400.3

p.D532N

c.1594G>A

2 papers

NM_005400.3

p.L539F

c.1615C>T