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

2 papers

NM_001282426.2

p.H471Q

c.1413C>G

Surrounding Variants

2 papers

NM_001282426.2

p.H471Q

c.1413C>A

2 papers

NM_001282426.2

p.R472S

c.1414C>A

3 papers

NM_001282426.2

p.R472C

c.1414C>T

1 paper

NM_001282426.2

p.L474V

c.1420C>G

1 paper

NM_001282426.2

p.L474F

c.1420C>T

1 paper

NM_001282426.2

p.I469L

c.1405A>C

1 paper

NM_001282426.2

p.I469L

c.1405A>T

3 papers

NM_001282426.2

p.L468M

c.1402C>A

2 papers

NM_001282426.2

p.R476H

c.1427G>A

1 paper

NM_001282426.2

p.R477C

c.1429C>T

2 papers

NM_001282426.2

p.R477H

c.1430G>A

2 papers

NM_001282426.2

p.G478R

c.1432G>A