Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.M1insFs

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.M1insFs
c.1_2insTT
Surrounding Variants
1 paper
NM_014264.5
p.M1Fs
c.1delinsGAGFs
1 paper
NM_014264.5
p.M1I
c.3G>C
2 papers
NM_014264.5
p.A2T
c.4G>A
1 paper
NM_014264.5
p.A2G
c.5C>G
5 papers
NM_014264.5
p.G6E
c.17G>A
1 paper
NM_014264.5
p.E10A
c.29A>C
1 paper
NM_014264.5
p.E10_D11insFs
c.30_31ins31
3 papers
NM_014264.5
p.E10_D11Splc
c.31-3A>G
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
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