Varaico: Literature-Extracted Genetic Variants

PIK3C2A

144 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 409–512UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 703–843UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 862–1046UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 1132–1347UCSCPhosphatidylinositol 3- and 4-kinase

PXaa 1450–1534UCSCPX domain

C2aa 1572–1680UCSCC2 domain

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

HGNC Alias Symbol

PI3K-C2alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002645.4

p.P147T

c.439C>A

Surrounding Variants

1 paper

NM_002645.4

p.P143L

c.428C>T

1 paper

NM_002645.4

p.R139K

c.416G>A

1 paper

NM_002645.4

p.R139*

c.415A>T

1 paper

NM_002645.4

p.R134K

c.401G>A

4 papers

NM_002645.4

p.F133L

c.399T>G

4 papers

NM_002645.4

p.F133L

c.399T>A

4 papers

NM_002645.4

p.F133L

c.397T>C

1 paper

NM_002645.4

p.T161A

c.481A>G

1 paper

NM_002645.4

p.S163C

c.487A>T

1 paper

NM_002645.4

p.R175K

c.524G>A

1 paper

NM_002645.4

p.P177L

c.530C>T

2 papers

NM_002645.4

p.T114delFs

c.340delT