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.G1721S

c.5161G>A

Surrounding Variants

5 papers

NM_058004.4

p.T1720I

c.5159C>T

1 paper

NM_058004.4

p.S1724S

c.5172C>T

1 paper

NM_058004.4

p.S1724S

c.5172C>G

3 papers

NM_058004.4

p.R1733W

c.5197C>T

2 papers

NM_058004.4

p.S1766_E1767delFs

c.5298_5299delCA

4 papers

NM_058004.4

p.P1706Splc

c.5116+1G>A

1 paper

NM_058004.4

p.N1694insFs

c.5081dupA

1 paper

NM_058004.4

p.S1797Splc

c.5391-2A>G

3 papers

NM_058004.4

p.K1808T

c.5423A>C

5 papers

NM_058004.4

p.E1820_G1821del1

c.5459_5461delCTT

1 paper

NM_058004.4

p.D1838Y

c.5512G>T

1 paper

NM_058004.4

p.W1844C

c.5532G>T