Varaico: Literature-Extracted Genetic Variants

PI4KA

132 papers

RefSeq Summary

This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been class...

Pfam Domains

PI4K_Naa 378–1514UCSCPI4-kinase N-terminal region

PI3Kaaa 1560–1728UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 1844–2051UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol 4-kinase alpha

HGNC Previous Symbol

PIK4CA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_058004.4

p.R1349H

c.4046G>A

Surrounding Variants

1 paper

NM_058004.4

p.H1342R

c.4025A>G

1 paper

NM_058004.4

p.R1341W

c.4021C>T

5 papers

NM_058004.4

p.H1295R

c.3884A>G

2 papers

NM_058004.4

p.H1295N

c.3883C>A

1 paper

NM_058004.4

p.P1290H

c.3869C>A

2 papers

NM_058004.4

p.A1282V

c.3845C>T

1 paper

NM_058004.4

p.A1282G

c.3845C>G

1 paper

NM_058004.4

p.A1423T

c.4267G>A

1 paper

NM_058004.4

p.P1429S

c.4285C>T

1 paper

NM_058004.4

p.S1494F

c.4481C>T

1 paper

NM_058004.4

p.I1504V

c.4510A>G

2 papers

NM_058004.4

p.P1513L

c.4538C>T