Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.Q316*

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.Q316*
c.946C>T
Surrounding Variants
1 paper
NM_014264.5
p.G315C
c.943G>T
2 papers
NM_014264.5
p.P317L
c.950C>T
1 paper
NM_014264.5
p.S301R
c.903T>A
1 paper
NM_014264.5
p.S335A
c.1003T>G
3 papers
NM_014264.5
p.I294S
c.881T>G
1 paper
NM_014264.5
p.D339H
c.1015G>C
1 paper
NM_014264.5
p.I290I
c.870T>A
2 papers
NM_014264.5
p.T289A
c.865A>G
1 paper
NM_014264.5
p.H287R
c.860A>G
1 paper
NM_014264.5
p.T345A
c.1033A>G
1 paper
NM_014264.5
p.D281N
c.841G>A
1 paper
NM_014264.5
p.E351*
c.1051G>T
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