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.R77*

c.229C>T

Surrounding Variants

1 paper

NM_001282426.2

p.A78P

c.232G>C

1 paper

NM_001282426.2

p.A78V

c.233C>T

1 paper

NM_001282426.2

p.A72T

c.214G>A

1 paper

NM_001282426.2

p.A72S

c.214G>T

1 paper

NM_001282426.2

p.K71_A72insFs

c.213_214insT

1 paper

NM_001282426.2

p.A84T

c.250G>A

3 papers

NM_001282426.2

p.A84V

c.251C>T

3 papers

NM_001282426.2

p.A85V

c.254C>T

1 paper

NM_001282426.2

p.D86E

c.258C>A

1 paper

NM_001282426.2

p.V67A

c.200T>C

1 paper

NM_001282426.2

p.V67M

c.199G>A

5 papers

NM_001282426.2

p.N66I

c.197A>T