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

1–12 of 184 variants

9 papers

NM_014264.5

p.D154A

c.461A>C

9 papers

NM_014264.5

p.F433fs

c.1297_1298fs

6 papers

NM_014264.5

p.F433_E435delFs

c.1299_1303del5

5 papers

NM_014264.5

p.G6E

c.17G>A

5 papers

NM_014264.5

p.S232T

c.694T>A

5 papers

NM_014264.5

p.E830D

c.2490G>C

5 papers

NM_014264.5

p.E830D

c.2490G>T

4 papers

NM_014264.5

p.D11fs

c.31_32fs

4 papers

NM_014264.5

p.M148V

c.442A>G

4 papers

NM_014264.5

p.R937Splc

c.2811-5C>G

3 papers

NM_014264.5

p.E10_D11Splc

c.31-3A>G

3 papers

NM_014264.5

p.K68fs

c.202_203fs