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.R1461fs

c.4381_4382fs

Surrounding Variants

1 paper

NM_002645.4

p.R1461*

c.4381C>T

2 papers

NM_002645.4

p.R1461delFs

c.4381delG

1 paper

NM_002645.4

p.P1486P

c.4458T>G

1 paper

NM_002645.4

p.R1536H

c.4607G>A

1 paper

NM_002645.4

p.L1565*

c.4694T>A

1 paper

NM_002645.4

p.M1577V

c.4729A>G

1 paper

NM_002645.4

p.K1425R

c.4274A>G

4 papers

NM_002645.4

p.T1415A

c.4243A>G

1 paper

NM_002645.4

p.P1413L

c.4238C>T

1 paper

NM_002645.4

p.K1597*

c.4789A>T

1 paper

NM_002645.4

p.K1609*

c.4825A>T

1 paper

NM_002645.4

p.R1610H

c.4829G>A