Varaico: Literature-Extracted Genetic Variants

PRKCD

259 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor su...

Pfam Domains

PKC_C2aa 4–112UCSCProtein kinase C delta/epsilon/eta/theta, C2 domain

C1_1aa 159–211UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 231–283UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Pkinaseaa 349–603UCSCProtein kinase domain

Pkinase_Caa 624–665UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

protein kinase C delta

HGNC Previous Name

protein kinase C, delta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_006254.4

p.G248S

c.742G>A

Surrounding Variants

1 paper

NM_006254.4

p.C247C

c.741C>T

2 papers

NM_006254.4

p.S249C

c.745A>T

1 paper

NM_006254.4

p.H246P

c.737A>C

1 paper

NM_006254.4

p.G253V

c.758G>T

1 paper

NM_006254.4

p.T242P

c.724A>C

1 paper

NM_006254.4

p.T242fs

c.724_725fs

1 paper

NM_006254.4

p.P241delFs

c.723delC

1 paper

NM_006254.4

p.G258*

c.772G>T

1 paper

NM_006254.4

p.K260R

c.779A>G

1 paper

NM_006254.4

p.V235L

c.703G>C

3 papers

NM_006254.4

p.P230L

c.689C>T

1 paper

NM_006254.4

p.P230T

c.688C>A