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

Selected Variant

1 paper

NM_005400.3

p.Y573F

c.1718A>T

Surrounding Variants

1 paper

NM_005400.3

p.T566A

c.1696A>G

4 papers

NM_005400.3

p.T563M

c.1688C>T

1 paper

NM_005400.3

p.K555Q

c.1663A>C

2 papers

NM_005400.3

p.L539F

c.1615C>T

1 paper

NM_005400.3

p.D532A

c.1595A>C

2 papers

NM_005400.3

p.D532N

c.1594G>A

1 paper

NM_005400.3

p.I578N

c.1733T>A

1 paper

NM_005400.3

p.Q580*

c.1738C>T

1 paper

NM_005400.3

p.E581*

c.1741G>T

1 paper

NM_005400.3

p.V588M

c.1762G>A

4 papers

NM_005400.3

p.E599K

c.1795G>A

1 paper

NM_005400.3

p.D622Y

c.1864G>T