Gene Name |
Gene alias |
UniProt |
Protein Name |
Protein Alias |
Mutation Type |
Amino Acid Change |
Ref. |
Cell Line; Ref. |
PIK3CA |
|
P42336 |
PIK3CA |
p100α, PI3Kα |
Frameshift-Ins |
p.1064insA |
[73] |
|
|
|
|
|
|
Missense |
p.A341V |
[158] |
|
|
|
|
|
|
Missense |
p.C971R |
[5] |
|
|
|
|
|
|
Missense |
p.E542K |
[2, 5, 72, 158-160] |
SCC-[6,167-168] |
|
|
|
|
|
Missense |
p.E545G |
[2] |
HSC3 [73] |
|
|
|
|
|
Missense |
p.E545K |
[2, 5, 72,73, 159-165] |
HSC4 [72-73] |
|
|
|
|
|
Missense |
p.E545Q |
[82] |
SQ9G [167] |
|
|
|
|
|
Missense |
p.G1049R |
[72, 163] |
|
|
|
|
|
|
Missense |
p.G1049S |
[72] |
|
|
|
|
|
|
Missense |
p.G363A |
[5] |
|
|
|
|
|
|
Missense |
p.H1047L |
[2, 3] |
|
|
|
|
|
|
Missense |
p.H1047R |
[2, 3, 5, 72, 160, 161,163] |
Detroit562; SUNE1; HONE1, CNE2; CAL-33; HSC2; HOC92; [71-73, 159, 166, 169-171] |
|
|
|
|
|
Frameshift |
p.H1065fs*6 |
[73] |
|
|
|
|
|
|
Missense |
p.M1043V |
[72, 160] |
HOC7[19,73] |
|
|
|
|
|
Synonymous |
p.P381P |
[159] |
|
|
|
|
|
|
Missense |
p.Q546L |
[72] |
|
|
|
|
|
|
Missense |
p.R115L |
[2] |
|
|
|
|
|
|
Nonsense |
p.R349* |
[158] |
|
|
|
|
|
|
Missense |
p.R975S |
[5] |
|
|
|
|
|
|
Synonymous |
pT1025T |
[73] |
|
|
|
|
|
|
Missense |
p.Y343C |
[159] |
|
PIK3CB |
PIK3C1 |
P42338 |
PIK3CB |
p110β, PI3Kβ |
Synonymous |
p.P422P |
[2] |
|
PIK3CD |
|
O00329 |
PIK3CD |
p110δ, PI3Kδ |
Missense |
p.T423S |
[5] |
|
|
|
|
|
|
Missense |
p.T458S |
[2] |
|
PIK3CG |
|
P48736 |
PIK3CG |
p110γ, PI3Kγ |
Missense |
p.A156V |
[2] |
|
|
|
|
|
|
Missense |
p.G491E |
[2] |
|
|
|
|
|
|
Missense |
p.L843H |
[2] |
|
|
|
|
|
|
Missense |
p.P526S |
[2] |
|
|
|
|
|
|
Missense |
p.R1021S |
[2] |
|
|
|
|
|
|
Missense |
p.S446F |
[2] |
|
|
|
|
|
|
Missense |
p.R178C |
[166] |
CAL-[27, 166] |
PIK3R1 |
GRB1 |
P27986 |
PIK3R1 |
p85α/p55α/ p50α, PI3Kα |
In frame_Ins |
p.453_454insN |
[2] |
|
|
|
|
|
|
Nonsense |
p.592_593KK>N* |
[5] |
|
|
|
|
|
|
Missense |
p.D560H |
[2] |
|
|
|
|
|
|
Missense |
p.I290V |
[2] |
|
PIK3R5 |
|
Q8WYR1 |
PIK3R5 |
p101, FOAP-2, p101-PIK3 |
Missense |
p.A341V |
[5] |
|
|
|
|
|
|
Missense |
p.E125G |
[5] |
|
|
|
|
|
|
Missense |
p.E322K |
[5] |
|
|
|
|
|
|
Nonsense |
p.E60* |
[5] |
|
PIK3R6 |
C17orf38 |
Q5UE93 |
PIK3R6 |
p84, p87, p84 PIKAP, p87 PIKAP |
Missense |
p.R483H |
[2] |
|
PIK3C2A |
|
O00443 |
PIK3C2A |
PI3K-C2α |
Splice Site SNP |
|
[2] |
|
|
|
|
|
|
Synonymous |
p.L226L |
[2] |
|
PIK3C2B |
|
O00750 |
PIK3C2B |
PI3K-C2β, C2-PI3K |
Missense |
p.R564C |
[2] |
|
PIK3C2G |
|
O75747 |
PIK3C2G |
PI3K-C2γ |
Deletion |
p.P129del |
[166] |
SCC-[15], Detroit5[62]; SCC-[25,166] |
|
|
|
|
|
Missense |
p.S1272L |
[5] |
|
|
|
|
|
|
Frameshift_Ins |
p.T62fs |
[5] |
|
|
|
|
|
|
Missense |
p.V656L |
[2] |
|
PIKFYVE |
PIP5K3, KIAA0981 |
Q9Y2I7 |
PIKfyve |
PIP5K, PIP5K3, PIPkin-III |
Missense Missense |
p.H1851Q p.R1766P |
[2]
[2] |
|
|