Varaico: Literature-Extracted Genetic Variants

PIK3C2G

275 papers

RefSeq Summary

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell sur...

Pfam Domains

PI3K_rbdaa 274–371UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 542–650UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 686–870UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 956–1171UCSCPhosphatidylinositol 3- and 4-kinase

PXaa 1266–1348UCSCPX domain

C2aa 1382–1481UCSCC2 domain

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma

HGNC Previous Names

phosphoinositide-3-kinase, class 2, gamma polypeptide; phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001288772.2

p.Y419C

c.1256A>G

Surrounding Variants

1 paper

NM_001288772.2

p.L421*

c.1262T>A

1 paper

NM_001288772.2

p.T423S

c.1267A>T

1 paper

NM_001288772.2

p.T423S

c.1268C>G

1 paper

NM_001288772.2

p.V401I

c.1201G>A

1 paper

NM_001288772.2

p.Q391*

c.1171C>T

1 paper

NM_001288772.2

p.F387L

c.1161T>G

1 paper

NM_001288772.2

p.Q386E

c.1156C>G

4 papers

NM_001288772.2

p.H384_Q386del3

c.1150_1157del9