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.S547*

c.1640C>A

Surrounding Variants

1 paper

NM_058004.4

p.S547*

c.1640C>G

1 paper

NM_058004.4

p.S553L

c.1658C>T

1 paper

NM_058004.4

p.M561L

c.1681A>T

1 paper

NM_058004.4

p.M561L

c.1681A>C

3 papers

NM_058004.4

p.R566*

c.1696C>T

1 paper

NM_058004.4

p.A569S

c.1705G>T

1 paper

NM_058004.4

p.A569T

c.1705G>A

1 paper

NM_058004.4

p.Q487_G488Splc

c.1462-17T>C

1 paper

NM_058004.4

p.A477_C485del9

c.1429_1454del27

1 paper

NM_058004.4

p.I475F

c.1423A>T

4 papers

NM_058004.4

p.S472R

c.1416C>G

4 papers

NM_058004.4

p.S472R

c.1416C>A