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.E172Fs

c.515delinsTGFs

Surrounding Variants

1 paper

NM_001282426.2

p.E172*

c.514G>T

1 paper

NM_001282426.2

p.E172fs

c.514_515fs

3 papers

NM_001282426.2

p.D171N

c.511G>A

1 paper

NM_001282426.2

p.H169H

c.507C>T

1 paper

NM_001282426.2

p.T176T

c.528G>C

1 paper

NM_001282426.2

p.V168L

c.502G>T

1 paper

NM_001282426.2

p.R177C

c.529C>T

1 paper

NM_001282426.2

p.R177H

c.530G>A

1 paper

NM_001282426.2

p.R178S

c.532C>A

3 papers

NM_001282426.2

p.R178C

c.532C>T

2 papers

NM_001282426.2

p.R178H

c.533G>A

1 paper

NM_001282426.2

p.R178L

c.533G>T