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.G170delFs

c.510delA

Surrounding Variants

1 paper

NM_001288772.2

p.G170fs

c.508_509fs

1 paper

NM_001288772.2

p.I169M

c.507A>G

1 paper

NM_001288772.2

p.S173G

c.517A>G

1 paper

NM_001288772.2

p.N166T

c.497A>C

1 paper

NM_001288772.2

p.P177S

c.529C>T

1 paper

NM_001288772.2

p.P177Q

c.530C>A

2 papers

NM_001288772.2

p.S180*

c.539C>A

2 papers

NM_001288772.2

p.S180*

c.539C>G

2 papers

NM_001288772.2

p.E159*

c.475G>T

1 paper

NM_001288772.2

p.S183L

c.548C>T

1 paper

NM_001288772.2

p.P188L

c.563C>T

1 paper

NM_001288772.2

p.N192K

c.576T>A