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.V1354V

c.4062T>C

Surrounding Variants

1 paper

NM_002645.4

p.R1324I

c.3971G>T

1 paper

NM_002645.4

p.R1308H

c.3923G>A

5 papers

NM_002645.4

p.I1299V

c.3895A>G

1 paper

NM_002645.4

p.P1413L

c.4238C>T

4 papers

NM_002645.4

p.T1415A

c.4243A>G

1 paper

NM_002645.4

p.K1425R

c.4274A>G

1 paper

NM_002645.4

p.T1261T

c.3783G>A

1 paper

NM_002645.4

p.R1251P

c.3752G>C

1 paper

NM_002645.4

p.F1232S

c.3695T>C

1 paper

NM_002645.4

p.P1220L

c.3659C>T

1 paper

NM_002645.4

p.N1219D

c.3655A>G

1 paper

NM_002645.4

p.Y1218*

c.3654C>G