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.K1968R

c.5903A>G

Surrounding Variants

1 paper

NM_058004.4

p.D1957A

c.5870A>C

3 papers

NM_058004.4

p.L1949P

c.5846T>C

3 papers

NM_058004.4

p.R1941*

c.5821C>T

3 papers

NM_058004.4

p.Y1937C

c.5810A>G

1 paper

NM_058004.4

p.D1975Splc

c.5924-57T>C

4 papers

NM_058004.4

p.N1987S

c.5960A>G

2 papers

NM_058004.4

p.E1991G

c.5972A>G

1 paper

NM_058004.4

p.D1998E

c.5994T>G

1 paper

NM_058004.4

p.D1998E

c.5994T>A

2 papers

NM_058004.4

p.R2022delFs

c.6065delC

1 paper

NM_058004.4

p.R2028Splc

c.6083+184A>G

2 papers

NM_058004.4

p.T1929P

c.5785A>C