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.D137N

c.409G>A

Surrounding Variants

1 paper

NM_001288772.2

p.A136V

c.407C>T

1 paper

NM_001288772.2

p.H133R

c.398A>G

1 paper

NM_001288772.2

p.K132N

c.396A>C

1 paper

NM_001288772.2

p.K132N

c.396A>T

1 paper

NM_001288772.2

p.I130K

c.389T>A

1 paper

NM_001288772.2

p.P129R

c.386C>G

1 paper

NM_001288772.2

p.P129L

c.386C>T

3 papers

NM_001288772.2

p.P129T

c.385C>A

1 paper

NM_001288772.2

p.A145V

c.434C>T

13 papers

NM_001288772.2

p.P129del1

c.385_386delCCC

1 paper

NM_001288772.2

p.A145A

c.435T>C

5 papers

NM_001288772.2

p.S128_P129del2

c.382_386del6