Varaico: Literature-Extracted Genetic Variants

PRKCQ

126 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

PKC_C2aa 4–113UCSCProtein kinase C delta/epsilon/eta/theta, C2 domain

C1_1aa 160–212UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

protein kinase C theta

HGNC Previous Name

protein kinase C, theta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006257.5

p.G541R

c.1621G>A

Surrounding Variants

2 papers

NM_006257.5

p.G541R

c.1621G>C

2 papers

NM_006257.5

p.G541V

c.1622G>T

1 paper

NM_006257.5

p.T538N

c.1613C>A

1 paper

NM_006257.5

p.T538A

c.1612A>G

1 paper

NM_006257.5

p.Y545C

c.1634A>G

1 paper

NM_006257.5

p.T536M

c.1607C>T

1 paper

NM_006257.5

p.A547T

c.1639G>A

1 paper

NM_006257.5

p.P548S

c.1642C>T

1 paper

NM_006257.5

p.A547_P548delins

c.1641_1642delinsTT

4 papers

NM_006257.5

p.D533E

c.1599T>G

4 papers

NM_006257.5

p.D533E

c.1599T>A

1 paper

NM_006257.5

p.P548Q

c.1643C>A