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.P590H

c.1769C>A

Surrounding Variants

1 paper

NM_001282426.2

p.P590S

c.1768C>T

1 paper

NM_001282426.2

p.P586S

c.1756C>T

1 paper

NM_001282426.2

p.E581D

c.1743A>C

1 paper

NM_001282426.2

p.G599R

c.1795G>A

1 paper

NM_001282426.2

p.G599R

c.1795G>C

3 papers

NM_001282426.2

p.E581K

c.1741G>A

1 paper

NM_001282426.2

p.Q600*

c.1798C>T

1 paper

NM_001282426.2

p.Y580C

c.1739A>G

1 paper

NM_001282426.2

p.Y580_S582del3

c.1738_1745del9

1 paper

NM_001282426.2

p.H577Y

c.1729C>T

1 paper

NM_001282426.2

p.L575H

c.1724T>A

1 paper

NM_001282426.2

p.K572T

c.1715A>C