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.E583Q

c.1747G>C

Surrounding Variants

4 papers

NM_002740.6

p.G581V

c.1742G>T

2 papers

NM_002740.6

p.A592T

c.1774G>A

1 paper

NM_002740.6

p.D568Splc

c.1703+17A>T

1 paper

NM_002740.6

p.D568N

c.1702G>A

2 papers

NM_002740.6

p.D567G

c.1700A>G

1 paper

NM_002740.6

p.P565Q

c.1694C>A

2 papers

NM_002740.6

p.Q562*

c.1684C>T

1 paper

NM_002740.6

p.P560R

c.1679C>G

1 paper

NM_002740.6

p.E559K

c.1675G>A

1 paper

NM_002740.6

p.E559*

c.1675G>T

1 paper

NM_002740.6

p.L549F

c.1647G>C

1 paper

NM_002740.6

p.L549F

c.1647G>T