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

1–12 of 171 variants

5 papers

NM_002645.4

p.I1299V

c.3895A>G

4 papers

NM_002645.4

p.F133L

c.397T>C

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.T1415A

c.4243A>G

3 papers

NM_002645.4

p.K28E

c.82A>G

3 papers

NM_002645.4

p.M76L

c.226A>T

3 papers

NM_002645.4

p.Q337R

c.1010A>G

3 papers

NM_002645.4

p.L472Q

c.1415T>A

3 papers

NM_002645.4

p.R519*

c.1555C>T

3 papers

NM_002645.4

p.R547Splc

c.1640+1G>T

2 papers

NM_002645.4

p.M76L

c.226A>C