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.R49C

c.145C>T

Surrounding Variants

5 papers

NM_001282426.2

p.R49S

c.145C>A

1 paper

NM_001282426.2

p.R49H

c.146G>A

1 paper

NM_001282426.2

p.Q48H

c.144G>C

1 paper

NM_001282426.2

p.Q48H

c.144G>T

1 paper

NM_001282426.2

p.Q48L

c.143A>T

1 paper

NM_001282426.2

p.Q48*

c.142C>T

1 paper

NM_001282426.2

p.C51F

c.152G>T

1 paper

NM_001282426.2

p.K52insFs

c.155_156ins5

1 paper

NM_001282426.2

p.P45T

c.133C>A

1 paper

NM_001282426.2

p.V43M

c.127G>A

1 paper

NM_001282426.2

p.E55K

c.163G>A

1 paper

NM_001282426.2

p.E55G

c.164A>G