Varaico: Literature-Extracted Genetic Variants

PIK3CG

507 papers

RefSeq Summary

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I ca...

Pfam Domains

PIK3CG_ABDaa 1–192UCSCPIK3 catalytic subunit gamma adaptor-binding domain

PI3K_rbdaa 203–312UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 377–519UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 543–733UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 827–1044UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

HGNC Previous Names

phosphoinositide-3-kinase, catalytic, gamma polypeptide; phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282426.2

p.P526S

c.1576C>T

Surrounding Variants

1 paper

NM_001282426.2

p.P526L

c.1577C>T

1 paper

NM_001282426.2

p.C524*

c.1572C>A

1 paper

NM_001282426.2

p.L529M

c.1585C>A

3 papers

NM_001282426.2

p.N522S

c.1565A>G

1 paper

NM_001282426.2

p.D521Y

c.1561G>T

1 paper

NM_001282426.2

p.P534T

c.1600C>A

1 paper

NM_001282426.2

p.P534S

c.1600C>T

1 paper

NM_001282426.2

p.P536L

c.1607C>T

1 paper

NM_001282426.2

p.D537Y

c.1609G>T

1 paper

NM_001282426.2

p.S515P

c.1543T>C

3 papers

NM_001282426.2

p.M514V

c.1540A>G

5 papers

NM_001282426.2

p.P538L

c.1613C>T