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.Q3E

c.7C>G

Surrounding Variants

1 paper

NM_002645.4

p.Q3H

c.9G>T

1 paper

NM_002645.4

p.Q3H

c.9G>C

1 paper

NM_002645.4

p.C13Y

c.38G>A

1 paper

NM_002645.4

p.S15F

c.44C>T

1 paper

NM_002645.4

p.S16S

c.48A>G

1 paper

NM_002645.4

p.P18L

c.53C>T

1 paper

NM_002645.4

p.K24_D25delFs

c.71_74del4

3 papers

NM_002645.4

p.K28E

c.82A>G

1 paper

NM_002645.4

p.E35D

c.105A>T

1 paper

NM_002645.4

p.E35D

c.105A>C

1 paper

NM_002645.4

p.Q52E

c.154C>G

1 paper

NM_002645.4

p.Q71_D74del4

c.211_221del12