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.D606G

c.1817A>G

Surrounding Variants

1 paper

NM_058004.4

p.A590T

c.1768G>A

1 paper

NM_058004.4

p.D584E

c.1752C>G

1 paper

NM_058004.4

p.D584E

c.1752C>A

5 papers

NM_058004.4

p.R618*

c.1852C>T

1 paper

NM_058004.4

p.A624T

c.1870G>A

1 paper

NM_058004.4

p.M634T

c.1901T>C

1 paper

NM_058004.4

p.E635K

c.1903G>A

1 paper

NM_058004.4

p.D653D

c.1959T>C

1 paper

NM_058004.4

p.Y672H

c.2014T>C

1 paper

NM_058004.4

p.A569S

c.1705G>T

1 paper

NM_058004.4

p.A569T

c.1705G>A

3 papers

NM_058004.4

p.R566*

c.1696C>T