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.S449F

c.1346C>T

Surrounding Variants

1 paper

NM_001282426.2

p.S446F

c.1337C>T

1 paper

NM_001282426.2

p.E453K

c.1357G>A

1 paper

NM_001282426.2

p.A445V

c.1334C>T

1 paper

NM_001282426.2

p.S454S

c.1362C>G

1 paper

NM_001282426.2

p.S443N

c.1328G>A

21 papers

NM_001282426.2

p.S442Y

c.1325C>A

1 paper

NM_001282426.2

p.P439T

c.1315C>A

2 papers

NM_001282426.2

p.L461F

c.1381C>T

1 paper

NM_001282426.2

p.Y462C

c.1385A>G

2 papers

NM_001282426.2

p.G436C

c.1306G>T

1 paper

NM_001282426.2

p.Q432H

c.1296G>T

1 paper

NM_001282426.2

p.Q432K

c.1294C>A