Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CG
Variant:p.Q391H

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.Q391H
c.1173A>T
Surrounding Variants
1 paper
NM_001282426.2
p.Q391H
c.1173A>C
1 paper
NM_001282426.2
p.G390E
c.1169G>A
1 paper
NM_001282426.2
p.V393I
c.1177G>A
2 papers
NM_001282426.2
p.G390V
c.1169G>T
1 paper
NM_001282426.2
p.H389Q
c.1167T>A
2 papers
NM_001282426.2
p.H389P
c.1166A>C
1 paper
NM_001282426.2
p.L394F
c.1180C>T
1 paper
NM_001282426.2
p.H389Y
c.1165C>T
1 paper
NM_001282426.2
p.Q396K
c.1186C>A
1 paper
NM_001282426.2
p.I387N
c.1160T>A
1 paper
NM_001282426.2
p.N386S
c.1157A>G
1 paper
NM_001282426.2
p.R398I
c.1193G>T
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