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.E810K

c.2428G>A

Surrounding Variants

1 paper

NM_058004.4

p.L804_M805delFs

c.2412_2415del4

1 paper

NM_058004.4

p.M805L

c.2413A>T

1 paper

NM_058004.4

p.M805L

c.2413A>C

7 papers

NM_058004.4

p.R796*

c.2386C>T

3 papers

NM_058004.4

p.L777P

c.2330T>C

1 paper

NM_058004.4

p.T828P

c.2482A>C

1 paper

NM_058004.4

p.P858_A859Splc

c.2574+1G>A

2 papers

NM_058004.4

p.P858_A859Splc

c.2575-1G>A

1 paper

NM_058004.4

p.R865C

c.2593C>T

2 papers

NM_058004.4

p.P875insFs

c.2624dupC

1 paper

NM_058004.4

p.P876S

c.2626C>T

1 paper

NM_058004.4

p.I882N

c.2645T>A