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.D1901fs

c.5701_5702fs

Surrounding Variants

1 paper

NM_058004.4

p.P1900delFs

c.5700delG

1 paper

NM_058004.4

p.V1895M

c.5683G>A

1 paper

NM_058004.4

p.F1914F

c.5742C>T

4 papers

NM_058004.4

p.G1925R

c.5773G>C

4 papers

NM_058004.4

p.G1925R

c.5773G>A

4 papers

NM_058004.4

p.G1925E

c.5774G>A

2 papers

NM_058004.4

p.T1929P

c.5785A>C

1 paper

NM_058004.4

p.T1889A

c.5665A>G

1 paper

NM_058004.4

p.L1867I

c.5599C>A

7 papers

NM_058004.4

p.D1854N

c.5560G>A

1 paper

NM_058004.4

p.V1851L

c.5551G>T

1 paper

NM_058004.4

p.V1851L

c.5551G>C