Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CG
Variant:p.D238N

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.D238N
c.712G>A
Surrounding Variants
1 paper
NM_001282426.2
p.D238fs
c.712_713fs
1 paper
NM_001282426.2
p.P237fs
c.709_710fs
2 papers
NM_001282426.2
p.D239N
c.715G>A
1 paper
NM_001282426.2
p.P237delFs
c.709delC
1 paper
NM_001282426.2
p.P241delFs
c.723delC
1 paper
NM_001282426.2
p.S236fs
c.706_707fs
1 paper
NM_001282426.2
p.V235_S236insFs
c.705_706ins5
2 papers
NM_001282426.2
p.P241S
c.721C>T
1 paper
NM_001282426.2
p.P241H
c.722C>A
1 paper
NM_001282426.2
p.G242S
c.724G>A
1 paper
NM_001282426.2
p.G242fs
c.724_725fs
2 papers
NM_001282426.2
p.A243T
c.727G>A
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