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

7 papers

NM_001282426.2

p.R1021P

c.3062G>C

Surrounding Variants

5 papers

NM_001282426.2

p.R1021H

c.3062G>A

1 paper

NM_001282426.2

p.R1021S

c.3061C>A

8 papers

NM_001282426.2

p.R1021C

c.3061C>T

2 papers

NM_001282426.2

p.A1019V

c.3056C>T

1 paper

NM_001282426.2

p.L1018P

c.3053T>C

1 paper

NM_001282426.2

p.L1018V

c.3052C>G

1 paper

NM_001282426.2

p.M1033V

c.3097A>G

1 paper

NM_001282426.2

p.L1035Q

c.3104T>A

1 paper

NM_001282426.2

p.G1038A

c.3113G>C

1 paper

NM_001282426.2

p.Q1041*

c.3121C>T

1 paper

NM_001282426.2

p.D1047G

c.3140A>G

2 papers

NM_001282426.2

p.R1052Q

c.3155G>A