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.F1206L

c.3618T>G

Surrounding Variants

2 papers

NM_002645.4

p.F1206L

c.3618T>A

2 papers

NM_002645.4

p.F1206L

c.3616T>C

1 paper

NM_002645.4

p.A1212V

c.3635C>T

1 paper

NM_002645.4

p.R1216R

c.3648G>A

1 paper

NM_002645.4

p.Y1218*

c.3654C>G

1 paper

NM_002645.4

p.Y1218*

c.3654C>A

1 paper

NM_002645.4

p.N1219D

c.3655A>G

1 paper

NM_002645.4

p.P1220L

c.3659C>T

1 paper

NM_002645.4

p.L1193F

c.3577C>T

1 paper

NM_002645.4

p.S1190C

c.3569C>G

1 paper

NM_002645.4

p.F1232S

c.3695T>C

1 paper

NM_002645.4

p.R1251P

c.3752G>C