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.N495I

c.1484A>T

Surrounding Variants

1 paper

NM_001288772.2

p.I494M

c.1482C>G

3 papers

NM_001288772.2

p.S489F

c.1466C>T

1 paper

NM_001288772.2

p.Y502C

c.1505A>G

1 paper

NM_001288772.2

p.E485D

c.1455A>C

1 paper

NM_001288772.2

p.E485D

c.1455A>T

1 paper

NM_001288772.2

p.Q506K

c.1516C>A

1 paper

NM_001288772.2

p.V482G

c.1445T>G

1 paper

NM_001288772.2

p.V510L

c.1528G>C

1 paper

NM_001288772.2

p.V510L

c.1528G>T

1 paper

NM_001288772.2

p.P519S

c.1555C>T

1 paper

NM_001288772.2

p.L521R

c.1562T>G

1 paper

NM_001288772.2

p.P522T

c.1564C>A