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

1 paper

NM_014264.5

p.K239T

c.716A>C

Surrounding Variants

3 papers

NM_014264.5

p.I242N

c.725T>A

2 papers

NM_014264.5

p.I236K

c.707T>A

1 paper

NM_014264.5

p.S235T

c.703T>A

1 paper

NM_014264.5

p.S235A

c.703T>G

1 paper

NM_014264.5

p.L246F

c.736C>T

5 papers

NM_014264.5

p.S232T

c.694T>A

1 paper

NM_014264.5

p.S232A

c.694T>G

2 papers

NM_014264.5

p.D252Y

c.754G>T

NM_001190799.2

p.D220Y

c.658G>T

1 paper

NM_014264.5

p.R253C

c.757C>T

2 papers

NM_014264.5

p.L254insFs

c.760_761insAC

2 papers

NM_014264.5

p.L254fs

c.760_761fs

1 paper

NM_014264.5

p.S257A

c.769T>G