Varaico: Literature-Extracted Genetic Variants

PRKCG

309 papers

RefSeq Summary

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide varie...

Pfam Domains

C1_1aa 36–88UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 101–153UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C2aa 171–277UCSCC2 domain

Pkinaseaa 351–613UCSCProtein kinase domain

Pkinase_Caa 640–675UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C gamma

HGNC Previous Symbols

PKCG; SCA14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_002739.5

p.H116P

c.347A>C

Surrounding Variants

1 paper

NM_002739.5

p.H116fs

c.346_347fs

1 paper

NM_002739.5

p.C117G

c.349T>G

1 paper

NM_002739.5

p.D115V

c.344A>T

1 paper

NM_002739.5

p.D115N

c.343G>A

4 papers

NM_002739.5

p.D115Y

c.343G>T

36 papers

NM_002739.5

p.G118D

c.353G>A

17 papers

NM_002739.5

p.C114Y

c.341G>A

1 paper

NM_002739.5

p.C114F

c.341G>T

37 papers

NM_002739.5

p.S119P

c.355T>C

20 papers

NM_002739.5

p.S119F

c.356C>T

3 papers

NM_002739.5

p.L120F

c.358C>T

5 papers

NM_002739.5

p.F113_C114del1

c.338_340delTCT