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

3 papers

NM_001288772.2

p.E55K

c.163G>A

Surrounding Variants

1 paper

NM_001288772.2

p.G49D

c.146G>A

1 paper

NM_001288772.2

p.N61H

c.181A>C

2 papers

NM_001288772.2

p.S48R

c.144T>A

2 papers

NM_001288772.2

p.S48R

c.144T>G

1 paper

NM_001288772.2

p.S48N

c.143G>A

2 papers

NM_001288772.2

p.S48R

c.142A>C

2 papers

NM_001288772.2

p.F64insFs

c.192dupT

2 papers

NM_001288772.2

p.E46K

c.136G>A

1 paper

NM_001288772.2

p.F64fs

c.190_191fs

1 paper

NM_001288772.2

p.V65M

c.193G>A

1 paper

NM_001288772.2

p.V44I

c.130G>A

6 papers

NM_001288772.2

p.I43delFs

c.128_129delTA