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

1–12 of 392 variants

13 papers

NM_001288772.2

p.P129del1

c.385_386delCCC

9 papers

NM_001288772.2

p.P146L

c.437C>T

7 papers

NM_001288772.2

p.P952L

c.2855C>T

6 papers

NM_001288772.2

p.I43delFs

c.128_129delTA

5 papers

NM_001288772.2

p.S128_P129del2

c.382_386del6

5 papers

NM_001288772.2

p.A261E

c.782C>A

4 papers

NM_001288772.2

p.H384_Q386del3

c.1150_1157del9

3 papers

NM_001288772.2

p.E55K

c.163G>A

3 papers

NM_001288772.2

p.P129T

c.385C>A

3 papers

NM_001288772.2

p.I294T

c.881T>C

3 papers

NM_001288772.2

p.S489F

c.1466C>T

3 papers

NM_001288772.2

p.R1075H

c.3224G>A