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

3 papers

NM_002645.4

p.Q337R

c.1010A>G

Surrounding Variants

1 paper

NM_002645.4

p.R335*

c.1003A>T

2 papers

NM_002645.4

p.R342*

c.1024C>T

1 paper

NM_002645.4

p.S327P

c.979T>C

1 paper

NM_002645.4

p.A349V

c.1046C>T

1 paper

NM_002645.4

p.Q350delFs

c.1048delG

1 paper

NM_002645.4

p.Q350fs

c.1048_1049fs

1 paper

NM_002645.4

p.K301M

c.902A>T

1 paper

NM_002645.4

p.W270*

c.810G>A

1 paper

NM_002645.4

p.W270*

c.809G>A

1 paper

NM_002645.4

p.W270_L271insC

c.808_812ins3

1 paper

NM_002645.4

p.D269N

c.805G>A

1 paper

NM_002645.4

p.S254S

c.762C>T