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.M1_E2insFs

c.3_4insA

Surrounding Variants

1 paper

NM_001282426.2

p.E2K

c.4G>A

1 paper

NM_001282426.2

p.E2Q

c.4G>C

1 paper

NM_001282426.2

p.M1R

c.2T>G

1 paper

NM_001282426.2

p.M1insFs

c.3dupG

1 paper

NM_001282426.2

p.E4_N5delFs

c.12_13delGA

2 papers

NM_001282426.2

p.E4E

c.12G>A

1 paper

NM_001282426.2

p.N5N

c.15C>T

1 paper

NM_001282426.2

p.Y6C

c.17A>G

1 paper

NM_001282426.2

p.Y6F

c.17A>T

1 paper

NM_001282426.2

p.K7_Q8del2

c.19_23del6

1 paper

NM_001282426.2

p.Q8R

c.23A>G

3 papers

NM_001282426.2

p.V11M

c.31G>A