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.Q1096R

c.3287A>G

Surrounding Variants

1 paper

NM_001282426.2

p.K1095R

c.3284A>G

1 paper

NM_001282426.2

p.G1097E

c.3290G>A

1 paper

NM_001282426.2

p.I1094M

c.3282C>G

2 papers

NM_001282426.2

p.G1093D

c.3278G>A

1 paper

NM_001282426.2

p.S1101L

c.3302C>T

1 paper

NM_001282426.2

p.V1091F

c.3271G>T

1 paper

NM_001282426.2

p.V1091fs

c.3271_3272fs

1 paper

NM_001282426.2

p.F1087C

c.3260T>G

4 papers

NM_001282426.2

p.N1085S

c.3254A>G

1 paper

NM_001282426.2

p.T1081N

c.3242C>A

2 papers

NM_001282426.2

p.C1075S

c.3224G>C

2 papers

NM_001282426.2

p.C1075S

c.3223T>A