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.G1058R

c.3172G>C

Surrounding Variants

1 paper

NM_001282426.2

p.G1058R

c.3172G>A

1 paper

NM_001282426.2

p.G1058W

c.3172G>T

1 paper

NM_001282426.2

p.N1060delFs

c.3179delA

1 paper

NM_001282426.2

p.K1059I

c.3176A>T

1 paper

NM_001282426.2

p.T1056I

c.3167C>T

2 papers

NM_001282426.2

p.R1052Q

c.3155G>A

1 paper

NM_001282426.2

p.A1064T

c.3190G>A

1 paper

NM_001282426.2

p.D1047G

c.3140A>G

1 paper

NM_001282426.2

p.D1070G

c.3209A>G

1 paper

NM_001282426.2

p.E1073K

c.3217G>A

1 paper

NM_001282426.2

p.Q1041*

c.3121C>T

2 papers

NM_001282426.2

p.C1075S

c.3223T>A