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.G426E

c.1277G>A

Surrounding Variants

1 paper

NM_001282426.2

p.G426fs

c.1276_1277fs

1 paper

NM_001282426.2

p.P424P

c.1272C>A

2 papers

NM_001282426.2

p.P424L

c.1271C>T

1 paper

NM_001282426.2

p.L429Q

c.1286T>A

2 papers

NM_001282426.2

p.L423V

c.1267T>G

1 paper

NM_001282426.2

p.Q432K

c.1294C>A

1 paper

NM_001282426.2

p.Q432H

c.1296G>T

1 paper

NM_001282426.2

p.S417ins5

c.1250_1251ins15

2 papers

NM_001282426.2

p.G436C

c.1306G>T

1 paper

NM_001282426.2

p.E415V

c.1244A>T

1 paper

NM_001282426.2

p.P439T

c.1315C>A

1 paper

NM_001282426.2

p.W413R

c.1237T>C