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.I1504V

c.4510A>G

Surrounding Variants

2 papers

NM_058004.4

p.P1513L

c.4538C>T

1 paper

NM_058004.4

p.N1527T

c.4580A>C

1 paper

NM_058004.4

p.W1540C

c.4620G>T

1 paper

NM_058004.4

p.W1540C

c.4620G>C

1 paper

NM_058004.4

p.W1548C

c.4644G>T

1 paper

NM_058004.4

p.W1548C

c.4644G>C

1 paper

NM_058004.4

p.S1494F

c.4481C>T

7 papers

NM_058004.4

p.V1556M

c.4666G>A

1 paper

NM_058004.4

p.N1570T

c.4709A>C

1 paper

NM_058004.4

p.P1580L

c.4739C>T

1 paper

NM_058004.4

p.K1591M

c.4772A>T

1 paper

NM_058004.4

p.A1613V

c.4838C>T