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.D1074V

c.3221A>T

Surrounding Variants

3 papers

NM_001288772.2

p.R1075H

c.3224G>A

1 paper

NM_004570.6

p.I1028T

c.3083T>C

NM_001288772.2

p.I1069T

c.3206T>C

1 paper

NM_001288772.2

p.I1080M

c.3240C>G

1 paper

NM_001288772.2

p.M1081I

c.3243G>A

1 paper

NM_001288772.2

p.M1081I

c.3243G>C

1 paper

NM_001288772.2

p.M1081I

c.3243G>T

1 paper

NM_001288772.2

p.M1088I

c.3264G>A

1 paper

NM_001288772.2

p.M1088I

c.3264G>C

1 paper

NM_001288772.2

p.M1088I

c.3264G>T

1 paper

NM_001288772.2

p.H1090L

c.3269A>T

1 paper

NM_001288772.2

p.F1093insFs

c.3279dupT

1 paper

NM_001288772.2

p.A1052G

c.3155C>G