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.R86fs

c.256_257fs

Surrounding Variants

1 paper

NM_002645.4

p.R86fs

c.256_257fs

1 paper

NM_002645.4

p.I90_D91insFs

c.270_271insC

1 paper

NM_002645.4

p.D82H

c.244G>C

1 paper

NM_002645.4

p.D91fs

c.271_272fs

1 paper

NM_002645.4

p.K94M

c.281A>T

3 papers

NM_002645.4

p.M76L

c.226A>T

2 papers

NM_002645.4

p.M76L

c.226A>C

1 paper

NM_002645.4

p.Q71_D74del4

c.211_221del12

1 paper

NM_002645.4

p.E101G

c.302A>G

1 paper

NM_002645.4

p.T114fs

c.340_341fs

2 papers

NM_002645.4

p.T114delFs

c.340delT

1 paper

NM_002645.4

p.Q52E

c.154C>G