Varaico: Literature-Extracted Genetic Variants

PRKCI

174 papers

RefSeq Summary

This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involve...

Pfam Domains

PB1aa 25–107UCSCPB1 domain

C1_1aa 141–193UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Pkinaseaa 254–522UCSCProtein kinase domain

Pkinase_Caa 543–584UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C iota

HGNC Previous Symbol

DXS1179E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002740.6

p.K274R

c.821A>G

Surrounding Variants

1 paper

NM_002740.6

p.K274E

c.820A>G

1 paper

NM_002740.6

p.L273F

c.819A>C

1 paper

NM_002740.6

p.L273F

c.819A>T

1 paper

NM_002740.6

p.K275R

c.824A>G

2 papers

NM_002740.6

p.T276insFs

c.826dupA

5 papers

NM_002740.6

p.L273delFs

c.819delA

1 paper

NM_002740.6

p.T276fs

c.826_827fs

3 papers

NM_002740.6

p.T276fs

c.826_827fs

1 paper

NM_002740.6

p.R272Q

c.815G>A

2 papers

NM_002740.6

p.R272*

c.814C>T

1 paper

NM_002740.6

p.V271I

c.811G>A

1 paper

NM_002740.6

p.R278C

c.832C>T