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

1–12 of 486 variants

4 papers

NM_006257.5

p.R145H

c.434G>A

4 papers

NM_006257.5

p.D533E

c.1599T>G

4 papers

NM_006257.5

p.D533E

c.1599T>A

3 papers

NM_006257.5

p.T136M

c.407C>T

3 papers

NM_006257.5

p.P330L

c.989C>T

3 papers

NM_006257.5

p.D594N

c.1780G>A

2 papers

NM_006257.5

p.N11S

c.32A>G

2 papers

NM_006257.5

p.E23K

c.67G>A

2 papers

NM_006257.5

p.P27L

c.80C>T

2 papers

NM_006257.5

p.V33I

c.97G>A

2 papers

NM_006257.5

p.V74L

c.220G>T

2 papers

NM_006257.5

p.V74L

c.220G>C