Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CG
Variant:p.P208L

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
5 papers
NM_001282426.2
p.P208L
c.623C>T
Surrounding Variants
1 paper
NM_001282426.2
p.P208P
c.624G>A
1 paper
NM_001282426.2
p.L211M
c.631C>A
1 paper
NM_001282426.2
p.K205N
c.615G>C
1 paper
NM_001282426.2
p.K205N
c.615G>T
1 paper
NM_001282426.2
p.P206delFs
c.616_617delCC
2 papers
NM_001282426.2
p.W212*
c.635G>A
2 papers
NM_001282426.2
p.W212*
c.636G>A
1 paper
NM_001282426.2
p.K213_K214insT
c.637_641ins3
1 paper
NM_001282426.2
p.T203T
c.609G>T
5 papers
NM_001282426.2
p.T203M
c.608C>T
1 paper
NM_001282426.2
p.W201S
c.602G>C
1 paper
NM_001282426.2
p.W201G
c.601T>G
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