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.L12_R13del2

c.34_38del6

Surrounding Variants

3 papers

NM_001282426.2

p.V11M

c.31G>A

4 papers

NM_001282426.2

p.E14delFs

c.41_42delAG

1 paper

NM_001282426.2

p.R13_C17del0

c.37_51del15

1 paper

NM_001282426.2

p.E14fs

c.40_41fs

1 paper

NM_001282426.2

p.E14*

c.40G>T

2 papers

NM_001282426.2

p.E14fs

c.40_41fs

1 paper

NM_001282426.2

p.E14D

c.42G>C

1 paper

NM_001282426.2

p.Q8R

c.23A>G

1 paper

NM_001282426.2

p.K7_Q8del2

c.19_23del6

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.N5N

c.15C>T