Varaico: Literature-Extracted Genetic Variants

PLK4

171 papers

RefSeq Summary

This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centrio...

Pfam Domains

Pkinaseaa 12–265UCSCProtein kinase domain

Plk4_PB1aa 591–697UCSCPolo-like Kinase 4 Polo Box 1

Plk4_PB2aa 699–807UCSCPolo-like Kinase 4 Polo Box 2

Gene Aliases

HGNC Name

polo like kinase 4

HGNC Previous Symbol

STK18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014264.5

p.E10_D11Splc

c.31-3A>G

Surrounding Variants

4 papers

NM_014264.5

p.D11fs

c.31_32fs

1 paper

NM_014264.5

p.F12C

c.35T>G

1 paper

NM_014264.5

p.N16S

c.47A>G

1 paper

NM_014264.5

p.L17M

c.49C>A

1 paper

NM_014264.5

p.L18F

c.52C>T

1 paper

NM_014264.5

p.G21*

c.61G>T

1 paper

NM_014264.5

p.F23Y

c.68T>A

2 papers

NM_014264.5

p.V26A

c.77T>C

1 paper

NM_014264.5

p.M42I

c.126G>C

1 paper

NM_014264.5

p.M42_I43Splc

c.126+5G>C

1 paper

NM_014264.5

p.E10_D11insFs

c.30_31ins31

1 paper

NM_014264.5

p.E10A

c.29A>C