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

1 paper

NM_002645.4

p.C514W

c.1542T>G

Surrounding Variants

3 papers

NM_002645.4

p.R519*

c.1555C>T

1 paper

NM_002645.4

p.L508S

c.1523T>C

1 paper

NM_002645.4

p.R497Q

c.1490G>A

1 paper

NM_002645.4

p.R497*

c.1489C>T

3 papers

NM_002645.4

p.L472Q

c.1415T>A

1 paper

NM_002645.4

p.V465V

c.1395A>C

1 paper

NM_002645.4

p.L462F

c.1386G>T

1 paper

NM_002645.4

p.L462F

c.1386G>C

1 paper

NM_002645.4

p.C456R

c.1366T>C

1 paper

NM_002645.4

p.I451V

c.1351A>G

1 paper

NM_002645.4

p.A521fs

c.1561_1562fs

1 paper

NM_002645.4

p.D523Y

c.1567G>T