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

4 papers

NM_058004.4

p.M2041T

c.6122T>C

Surrounding Variants

1 paper

NM_058004.4

p.L2040I

c.6118C>A

1 paper

NM_058004.4

p.Q2052fs

c.6154_6155fs

1 paper

NM_058004.4

p.T2053S

c.6157A>T

2 papers

NM_058004.4

p.T2053fs

c.6157_6158fs

6 papers

NM_058004.4

p.Q2052_T2053delFs

c.6156_6159del4

1 paper

NM_058004.4

p.R2028Q

c.6083G>A

1 paper

NM_058004.4

p.R2028Splc

c.6083+184A>G

2 papers

NM_058004.4

p.E2069A

c.6206A>C

2 papers

NM_058004.4

p.R2022delFs

c.6065delC

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.E1991G

c.5972A>G