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.M35K

c.104T>A

Surrounding Variants

1 paper

NM_001282426.2

p.M35L

c.103A>C

1 paper

NM_001282426.2

p.M35L

c.103A>T

1 paper

NM_001282426.2

p.E36_L37del2

c.106_110del6

1 paper

NM_001282426.2

p.L37_C51del15

c.109_152del45

1 paper

NM_001282426.2

p.L37_C51del0

c.110_151del42

1 paper

NM_001282426.2

p.L37insFs

c.110_111ins8

1 paper

NM_001282426.2

p.I38F

c.112A>T

5 papers

NM_001282426.2

p.A30G

c.89C>G

1 paper

NM_001282426.2

p.A30T

c.88G>A

1 paper

NM_001282426.2

p.A29S

c.85G>T

1 paper

NM_001282426.2

p.V43M

c.127G>A

3 papers

NM_001282426.2

p.R26H

c.77G>A