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.P105L

c.314C>T

Surrounding Variants

1 paper

NM_001288772.2

p.S102R

c.306C>G

1 paper

NM_001288772.2

p.G108fs

c.322_323fs

1 paper

NM_001288772.2

p.S112F

c.335C>T

1 paper

NM_001288772.2

p.L114I

c.340T>A

1 paper

NM_001288772.2

p.P115L

c.344C>T

1 paper

NM_001288772.2

p.R94C

c.280C>T

1 paper

NM_001288772.2

p.N121D

c.361A>G

1 paper

NM_001288772.2

p.E88A

c.263A>C

2 papers

NM_001288772.2

p.S125F

c.374C>T

5 papers

NM_001288772.2

p.S128_P129del2

c.382_386del6

13 papers

NM_001288772.2

p.P129del1

c.385_386delCCC

1 paper

NM_001288772.2

p.H82Y

c.244C>T