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

7 papers

NM_001288772.2

p.P952L

c.2855C>T

Surrounding Variants

2 papers

NM_001288772.2

p.M953T

c.2858T>C

1 paper

NM_001288772.2

p.F947F

c.2841C>T

1 paper

NM_004570.6

p.A899D

c.2696C>A

1 paper

NM_001288772.2

p.S934*

c.2801C>A

1 paper

NM_001288772.2

p.S934*

c.2801C>G

1 paper

NM_001288772.2

p.G964R

c.2890G>A

1 paper

NM_001288772.2

p.G964R

c.2890G>C

1 paper

NM_001288772.2

p.D965H

c.2893G>C

1 paper

NM_001288772.2

p.M971V

c.2911A>G

1 paper

NM_001288772.2

p.D990V

c.2969A>T

1 paper

NM_001288772.2

p.I994T

c.2981T>C

1 paper

NM_001288772.2

p.G1006R

c.3016G>A