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Gene Symbol PIK3CA
Synonyms CLAPO | CLOVE | CWS5 | MCAP | MCM | MCMTC | p110-alpha | PI3K | PI3K-alpha
Gene Description PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, activates PI3K/AKT/mTOR signaling to promote cell proliferation (PMID: 23411347, PMID: 31905960). PIK3CA activating mutations have been identified in a number of tumor types such as breast cancer (PMID: 32234362, PMID: 32404150), colon cancer (PMID: 32099598), endometrial cancer, glioblastoma, skin cancer, ovarian cancer (PMID: 20535651, PMID: 31892193), and mammary angiosarcoma (PMID: 32123305), and PIK3CA amplification has been observed in esophageal adenocarcinoma (PMID: 31865178).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1020V missense no effect PIK3CA A1020V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1020V demonstrates transformation potential and supports cell survival to similar level of wild-type Pik3ca protein in cell culture (PMID: 26627007, PMID: 29533785).
A1035V missense unknown PIK3CA A1035V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1035V has been identified in sequencing studies (PMID: 30167082, PMID: 28936923, PMID: 28581676), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2020).
A1046E missense unknown PIK3CA A1046E lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1046E has been identified in the scientific literature (PMID: 18022911, PMID: 22357840, PMID: 22753589), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
A1046T missense unknown PIK3CA A1046T lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1046T has been identified in the scientific literature (PMID: 25150293, PMID: 22357840, PMID: 30546467), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
A1046V missense unknown PIK3CA A1046V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1046V has been identified in the scientific literature (PMID: 23107319, PMID: 26796526), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
A1046_H1047insTSA insertion unknown PIK3CA A1046_H1047insTSA results in the insertion of three amino acids in the PI3K/PI4K domain of the Pik3ca protein between amino acids 1046 and 1047 (UniProt.org). A1046_H1047insTSA has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
act mut unknown gain of function PIK3CA act mut indicates that this variant results in a gain of function in the Pik3ca protein. However, the specific amino acid change has not been identified.
amp none no effect PIK3CA amplification indicates an increased number of copies of the PIK3CA gene. However, the mechanism causing the increase is unspecified.
C24Y missense no effect - predicted PIK3CA C24Y lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). C24Y has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
C378R missense gain of function PIK3CA C378R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C378R results in constitutive activation of Pi3k and Akt signaling, and decreased apoptosis in cell culture (PMID: 17363507).
C378Y missense unknown PIK3CA C378Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C378Y results in increased transformation ability in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
C407F missense unknown PIK3CA C407F lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C407F has been identified in sequencing studies (PMID: 30337457, PMID: 29386312), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
C407W missense unknown PIK3CA C407W lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C407W has been identified in sequencing studies (PMID: 26919320, PMID: 20826764, PMID: 25850943), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
C407Y missense unknown PIK3CA C407Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C407Y has been identified in sequencing studies (PMID: 27302833, PMID: 21984976), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
C420G missense unknown PIK3CA C420G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). The functional effect of C420G is conflicting, as it results in increased Akt phosphorylation and cell proliferation, and is transforming in cell culture in one study (PMID: 18074223), however in another study, induces similar cell proliferation and cell viability compared to wild-type Pik3ca, in two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.
C420R missense gain of function PIK3CA C420R lies within the C2 PI3K-type domain of the Pik3ca protein (PMID: 17376864). C420R confers a gain of function on Pik3ca, as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
C604R missense gain of function - predicted PIK3CA C604R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). C604R has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
C901F missense gain of function - predicted PIK3CA C901F lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). C901F has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
C901Y missense unknown PIK3CA C901Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). C901Y has been identified in sequencing studies (PMID: 30268455, PMID: 28539465), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
C971R missense gain of function - predicted PIK3CA C971R lies within the PI3K/PI4K kinase domain of the Pik3ca protein (UniProt.org). C971R results in increased PI3K pathway signaling, moderate growth in culture (PMID: 23619167), but in one of two cell lines, C971R increased cell proliferation and cell viability as compared to wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to result in a gain of Pik3ca protein function.
D1029H missense unknown PIK3CA D1029H lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1029H has been identified in the scientific literature (PMID: 26643573, PMID: 22949056, PMID: 23718828), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D1029Y missense gain of function PIK3CA D1029Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1029Y confers a gain of function to the Pik3ca protein, as demonstrated by increased phosphorylation of Akt and transformation of cells in culture (PMID: 19394761).
D1045N missense unknown PIK3CA D1045N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1045N has been identified in the scientific literature (PMID: 25624430, PMID: 26850916, PMID: 23248156), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D1045V missense unknown PIK3CA D1045V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1045V has been identified in sequencing studies (PMID: 28936923), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D1056G missense unknown PIK3CA D1056G lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1056G has been identified in the scientific literature (PMID: 17317825), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D300Y missense unknown PIK3CA D300Y does not lie within any known functional domains of the Pik3ca protein (UniProt.org). D300Y has been identified in sequencing studies (PMID: 21984976), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D350G missense gain of function PIK3CA D350G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D350G results in increased phosphorylation of Akt in cell culture (PMID: 24265155) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
D350N missense gain of function - predicted PIK3CA D350N lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D350N has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
D454Y missense unknown PIK3CA D454Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D454Y has been identified in sequencing studies (PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D520V missense unknown PIK3CA D520V lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D520V has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D538Y missense no effect - predicted PIK3CA D538Y lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). D538Y did not result in increased cell proliferation in culture compared to wild-type Pik3ca and therefore, is predicted to have no effect on Pik3ca protein function (PMID: 29636477).
D549H missense unknown PIK3CA D549H lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549H has been identified in the scientific literature (PMID: 29106415, PMID: 30619505, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D549N missense gain of function - predicted PIK3CA D549N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549N has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
D549Y missense unknown PIK3CA D549Y lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549Y has been identified in the scientific literature (PMID: 29106415, PMID: 26270481), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D926N missense unknown PIK3CA D926N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D926N has been identified in sequencing studies (PMID: 30766968, PMID: 26099045), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
D939G missense gain of function - predicted PIK3CA D939G lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D939G has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
dec exp none no effect PIK3CA dec exp indicates decreased expression of the Pik3ca protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E1037K missense gain of function - predicted PIK3CA E1037K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). E1037K has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E103_G106delinsD indel gain of function - predicted PIK3CA E103_G106delinsD results in a deletion of 4 amino acids from amino acid 103 to 106 within the PI3K-ABD of the Pik3ca protein, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). E103_G106delinsD has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E103_P104del deletion gain of function - predicted PIK3CA E103_P104del results in the deletion of two amino acids in the Pik3ca protein from amino acids 103 to 104 (UniProt.org). E103_P104del has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E109del deletion unknown PIK3CA E109del results in the deletion of one amino acid of the Pik3ca protein at amino acid 109 (UniProt.org). E109del has been identified in sequencing studies (PMID: 26643573, PMID: 25850943, PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
E109_I112delinsD indel gain of function - predicted PIK3CA E109_I112delinsD results in a deletion of four amino acids from amino acid 109 to 112 of the Pik3ca protein, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). E109_I112delinsD has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E110del deletion gain of function - predicted PIK3CA E110del results in the deletion of an amino acid in an unknown region of the Pik3ca protein (UniProt.org). E110del has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E110K missense unknown PIK3CA E110K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E110K has been identified in the scientific literature (PMID: 23619167, PMID: 29535826, PMID: 24559118), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
E116K missense no effect PIK3CA E116K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E116K phosphorylates Akt to similar level of wild-type Pik3ca and is not transforming in culture (PMID: 17376864).
E149G missense no effect - predicted PIK3CA E149G does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E149G has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
E218K missense no effect - predicted PIK3CA E218K lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). E218K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
E321D missense unknown PIK3CA E321D does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E321D has been identified in the scientific literature (PMID: 32098826), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
E365K missense gain of function - predicted PIK3CA E365K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E365K is predicted to confer a gain of function to Pik3ca, as indicated by increased phosphorylation of downstream targets Akt, GSK3-beta, FoxO1, FoxO3a, and S6 in cell culture (PMID: 18829572, PMID: 21266528), and in one of two cell lines, increased cell proliferation and cell viability as compared to wild-type Pik3ca (PMID: 29533785).
E365V missense unknown PIK3CA E365V lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E365V results in increased transformation ability in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
E39K missense gain of function - predicted PIK3CA E39K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E39K results in increased cell proliferation and transformation ability in culture (PMID: 29533785, PMID: 29636477), and therefore, is predicted to result in a gain of Pik3ca protein function.
E418K missense unknown PIK3CA E418K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E418K has been identified in the scientific literature (PMID: 30948643, PMID: 29615459, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
E453A missense gain of function PIK3CA E453A lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453A confers a gain of function to Pik3ca, as indicated by increased Akt phosphorylation in cell culture (PMID: 21266528) and increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
E453del deletion unknown PIK3CA E453del results in the deletion of one amino acid in the C2 PI3K-type domain of the Pik3ca protein at amino acid 453 (UniProt.org). E453del has been identified in sequencing studies (PMID: 31349857, PMID: 26226847), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
E453G missense unknown PIK3CA E453G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453G has been identified in sequencing studies (PMID: 26832993), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
E453K missense gain of function PIK3CA E453K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453K results in increased phosphorylation of Akt and Mek1/2, enhanced cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785).
E453Q missense gain of function PIK3CA E453Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453Q confers a gain of function to Pik3ca as indicated by increased lipid kinase activity in cell culture (PMID: 15930273) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
E453_L455delinsV indel unknown PIK3CA E453_L455delinsV results in the deletion of three amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 453 to 455, combined with the insertion of a valine (V) at the same site (UniProt.org). E453_L455delinsV has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2020).
E469delinsDK indel gain of function - predicted PIK3CA E469delinsDK results in the deletion of one amino acid within the C2 PI3K-type domain of the Pik3ca protein, combined with the insertion of an aspartic acid (D) and lysine (K) at the same site (UniProt.org). E469delinsDK has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E522A missense unknown PIK3CA E522A lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E522A has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
E542A missense gain of function - predicted PIK3CA E542A lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542A has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E542G missense gain of function - predicted PIK3CA E542G lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542G has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E542K missense gain of function PIK3CA E542K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542K results in increased phosphorylation of Akt, growth factor-independent cell survival, and is transforming in cell culture (PMID: 16533766, PMID: 26627007, PMID: 29533785).
E542Q missense unknown PIK3CA E542Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542Q results in cell proliferation and cell viability similar to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
E542V missense gain of function PIK3CA E542V is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542V confers a gain of function on Pik3ca, as indicated by increased phosphorylation of Akt and Mek1/2, growth-factor independent cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785).
E542X missense unknown PIK3CA E542X indicates any Pik3ca missense mutation which results in the glutamic acid (E) at amino acid 542 being replaced by a different amino acid.
E545A missense gain of function PIK3CA E545A is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545A confers a gain of function on the Pik3ca protein as demonstrated by increased phosphorylation of Akt and transformation in cell culture (PMID: 17376864, PMID: 29533785).
E545D missense gain of function - predicted PIK3CA E545D lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545D has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
E545G missense gain of function PIK3CA E545G is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545G confers a gain of function on the Pik3ca protein as demonstrated by increased phosphorylation of Akt and transformation in cell culture (PMID: 17376864, PMID: 29533785).
E545K missense gain of function PIK3CA E545K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545K results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785).
E545Q missense gain of function - predicted PIK3CA E545Q is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545Q has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by growth factor-independent cell survival and transformation in culture (PMID: 26627007, PMID: 29533785).
E545V missense unknown PIK3CA E545V is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545V has been identified in sequencing studies (PMID: 29482551, PMID: 24504419), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2020).
E545X missense unknown PIK3CA E545X indicates any Pik3ca missense mutation which results in the glutamic acid (E) at amino acid 545 being replaced by a different amino acid. PIK3CA E545X mutations are "hotspot" mutations resulting in increased Pik3ca kinase activity (PMID: 15930273).
E547K missense loss of function - predicted PIK3CA E547K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (PMID: 27177864). E547K has not been biochemically characterized, but is predicted to confer a loss of function on the Pik3ca protein as demonstrated by decreased transformation ability as compared to wild-type Pik3ca (PMID: 29533785).
E710G missense no effect - predicted PIK3CA E710G lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E710G did not result in increased cell proliferation in culture compared to wild-type Pik3ca and therefore, is predicted to have no effect on Pik3ca protein function (PMID: 29636477).
E722K missense unknown PIK3CA E722K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R770Q has been identified in the scientific literature (PMID: 31852484), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2020).
E726K missense gain of function - predicted PIK3CA E726K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E726K has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation in cell culture (PMID: 29533785).
E78K missense unknown PIK3CA E78K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E78K has been identified in the scientific literature (PMID: 27126994), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
E80K missense unknown PIK3CA E80K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E80K has been identified in the scientific literature (PMID: 29636477, PMID: 22722201, PMID: 31174159), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
E81* nonsense loss of function - predicted PIK3CA E81* results in a premature truncation of the Pik3ca protein at amino acid 81 of 1068 (UniProt.org). Due to the loss of PI3K/PI4K kinase domain (UniProt.org), E81* is predicted to lead to a loss of Pik3ca function.
E81K missense unknown PIK3CA E81K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). The functional effect of E81K is conflicting, as it results in increased Akt phosphorylation, activation of Mtor signaling, and growth advantage in patient-derived dermal fibroblasts in culture (PMID: 25915946), however in another study, E81K decreased cell proliferation and cell viability as compared to wild-type Pik3ca (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.
E978K missense unknown PIK3CA E978K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). E978K has been identified in the scientific literature (PMID: 28119489), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
exon10 unknown unknown PIK3CA exon 10 indicates an unspecified mutation has occurred in exon 10 (corresponding to amino acids 514 to 555) of the PIK3CA gene. PIK3CA exon 10 is sometimes reported as exon 9, when only coding exons are considered in numbering.
exon20 unknown unknown PIK3CA exon 20 indicates an unspecified mutation has occurred in exon 20 (corresponding to amino acids 929 to 979) of the PIK3CA gene. PIK3CA exon 21 (corresponding to amino acids 979 to 1068) is sometimes reported as exon 20, when only coding exons are considered in numbering.
exon21 unknown unknown PIK3CA exon 21 indicates an unspecified mutation has occurred in exon 21 (corresponding to amino acids 979 to 1068) of the PIK3CA gene. PIK3CA exon 21 is sometimes reported as exon 20, when only coding exons are considered in numbering.
exon9 unknown unknown PIK3CA exon 9 indicates an unspecified mutation has occurred in exon 9 (corresponding to amino acids 469 to 513) of the PIK3CA gene. PIK3CA exon 10 (corresponding to amino acids 514 to 555) is sometimes reported as exon 9, when only coding exons are considered in numbering.
F1039L missense unknown PIK3CA F1039L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F1039L has been identified in sequencing studies (PMID: 30089603, PMID: 22949056, PMID: 19487299), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
F550S missense unknown PIK3CA F550S lies within the PIK helical domain of the Pik3ca protein (UniProt.org). F550S has been identified in sequencing studies (PMID: 30268455, PMID: 19487299, PMID: 17317825), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
F614I missense no effect - predicted PIK3CA F614I lies within the PIK helical domain of the Pik3ca protein (UniProt.org). F614I has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
F744L missense unknown PIK3CA F744L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). F744L has been identified in the scientific literature (PMID: 30683736), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2020).
F909L missense unknown PIK3CA F909L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F909L has been identified in sequencing studies (PMID: 24440717, PMID: 15805248), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
F930S missense gain of function - predicted PIK3CA F930S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F930S results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function. Y
F977Y missense unknown PIK3CA F977Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F977Y has been associated with resistance to a PI3K inhibitor in culture (PMID: 30108165), but has not been biochemically characterized and therefore, its effect on Pik3ca function is unknown (PubMed, Aug 2020). Y
G1007R missense gain of function - predicted PIK3CA G1007R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1007R has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
G1049A missense unknown PIK3CA G1049A lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049A has been identified in sequencing studies (PMID: 24062397, PMID: 23301057, PMID: 19839777), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
G1049C missense unknown PIK3CA G1049C lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049C has been identified in sequencing studies (PMID: 29854313, PMID: 23266353), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
G1049D missense unknown PIK3CA G1049D lies within the PI3K/PI4K protein kinase domain of the Pik3ca protein (UniProt.org). G1049D has been identified in the scientific literature (PMID: 28731042, PMID: 26452060, PMID: 24062397), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
G1049R missense gain of function PIK3CA G1049R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transforming in cell culture (PMID: 26627007, PMID: 29533785).
G1049S missense unknown PIK3CA G1049S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049S has been identified in the scientific literature (PMID: 17052259, PMID: 25656989, PMID: 27177864), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
G106R missense gain of function - predicted PIK3CA G106R does not lie within any known functional domains of the Pik3ca proten (UniProt.org). G106R is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased Akt phosphorylation in cell culture (PMID: 21266528) and in one of two cell lines, increased cell proliferation and cell viability as compared to wild-type Pik3ca (PMID: 29533785).
G106V missense gain of function PIK3CA G106V does not lie within any known functional domains of the Pik3ca proten (UniProt.org). G106V results in activation of Pik3ca as indicated by increased Akt phosphorylation in cell culture (PMID: 21266528), increased cell invasion and migration in the context of an EGFR activating mutation in vitro (PMID: 29106415), and increased transformation ability in two different cell lines (PMID: 29533785).
G106_R108del deletion gain of function PIK3CA G106_R108del results in the deletion of three amino acids in the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein from amino acids 106 to 108 (UniProt.org). G106_R108del results in increased phosphorylation of Akt and is transforming in cell culture (PMID: 19394761, PMID: 29533785).
G118D missense gain of function PIK3CA G118D lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). G118D confers a gain of function on the Pik3ca protein as indicated by enhanced lipid kinase activity in cell culture, increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (PMID: 22949682, PMID: 23246288), and increased transformation ability in two different cell lines (PMID: 29533785).
G12D missense unknown PIK3CA G12D does not lie within any known functional domains of the Pik3ca protein (UniProt.org). G12D has been identified in sequencing studies (PMID: 23933559), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
G363A missense unknown PIK3CA G363A lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). The functional effect of G363A is conflicting, as it demonstrates increased PI3K pathway signaling and moderate growth in culture (PMID: 23619167, PMID: 28528867), however in another study, results in similar cell proliferation and viability levels compared to wild-type Pik3ca in two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.
G364R missense gain of function PIK3CA G364R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). G364R results in increased phosphorylation of Akt in cell culture (PMID: 21266528) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
G451R missense gain of function - predicted PIK3CA G451R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). G451R has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
G451V missense unknown PIK3CA G451V lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). G451V results in increased cell proliferation and cell viability compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
G512* nonsense loss of function - predicted PIK3CA G512* results in a premature truncation of the Pik3ca protein at amino acid 512 of 1068 (UniProt.org). Due to the loss of the PI3K/PI4K kinase domain (UniProt.org), G512* is predicted to lead to a loss of Pik3ca function.
G914R missense unknown PIK3CA G914R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G914R has been identified in sequencing studies (PMID: 30709910, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
H1047K missense unknown PIK3CA H1047K is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047K has been identified in the scientific literature (PMID: 27374081, PMID: 26783290), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2020).
H1047L missense gain of function PIK3CA H1047L is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047L results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785).
H1047P missense unknown PIK3CA H1047P is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047P has been identified in sequencing studies (PMID: 22357840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
H1047Q missense unknown PIK3CA H1047Q is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047Q has been identified in sequencing studies (PMID: 31158500, PMID: 30547809, PMID: 26366557), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2020).
H1047R missense gain of function PIK3CA H1047R is a hotspot mutation that lies within the kinase domain of the Pik3ca protein (UniProt.org). H1047R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785).
H1047T missense unknown PIK3CA H1047T is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047T has identified in the scientific literature (PMID: 29636477), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2020).
H1047X missense unknown PIK3CA H1047X indicates any Pik3ca missense mutation which results in the histidine (H) at amino acid 1047 being replaced by a different amino acid. PIK3CA H1047X mutations are "hotspot" mutations resulting in increased Pik3ca kinase activity and transformation activity in culture (PMID: 15930273).
H1047Y missense gain of function PIK3CA H1047Y is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047Y confers a gain of function on the Pik3ca protein as indicated by increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
H1048L missense unknown PIK3CA H1048L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1048L has been identified in the scientific literature (PMID: 32042320), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
H1048R missense unknown PIK3CA H1048R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1048R has been identified in sequencing studies (PMID: 30181556, PMID: 28638113, PMID: 26796526), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
H1065L missense unknown PIK3CA H1065L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1065L has been identified in the scientific literature (PMID: 29515801, PMID: 27334835, PMID: 18084252), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
H1065Y missense unknown PIK3CA H1065Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1065Y has been identified in sequencing studies (PMID: 30503610, PMID: 15289301), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jul 2020).
H450_P458del deletion gain of function PIK3CA H450_P458del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 450 to 458 (UniProt.org). H450_P458del confers a gain of function to the Pik3ca protein as demonstrated by transformation in culture and activation of the PI3K/Akt/Mtor pathway via increased phosphorylation of Akt, Erk, P70S6K, and P90RSK (PMID: 29284706).
H47R missense unknown PIK3CA H47R lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). H47R has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
H665Q missense unknown PIK3CA H665Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). H665Q has been identified in sequencing studies (PMID: 23028188), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
H701P missense no effect PIK3CA H701P does not lie within any known functional domains of the Pik3ca protein (UniProt.org). H701P demonstrates transformation potential and ability to promote growth factor-independent cell survival at similar levels to wild-type Pik3ca protein in cell culture (PMID: 26627007, PMID: 29533785).
H701R missense unknown PIK3CA H701R does not lie within any known functional domains of the Pik3ca protein (UniProt.org). H701R has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
I112N missense unknown PIK3CA I112N does not lie within any known functional domains of the Pik3ca protein (UniProt.org). I112N demonstrates increased transformation ability in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
I20M missense unknown PIK3CA I20M lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). I20M has been identified in the scientific literature (PMID: 29426295, PMID: 28119489), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
I273V missense unknown PIK3CA I273V lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). I273V has been identified in the scientific literature (PMID: 27126994), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
I31M missense no effect PIK3CA I31M lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). I31M demonstrates transformation potential and ability to promote growth factor-independent cell survival at similar levels to wild-type Pik3ca protein in cell culture (PMID: 26627007, PMID: 29533785 ).
I391M missense unknown PIK3CA I391M lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). I391M demonstrates kinase activity similar to wild-type Pik3ca in one study (PMID: 20530683), but results in increased cell proliferation and cell viability as compared to wild-type Pik3ca in one of two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.
I406V missense unknown PIK3CA I406V lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). I406V has been identified in sequencing studies (PMID: 23028188, PMID: 21984976), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
I889M missense unknown PIK3CA I889M lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). I889M has been identified in sequencing studies (PMID: 29212173, PMID: 22975805), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
I910M missense unknown PIK3CA I910M lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). I910M has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
I910V missense unknown PIK3CA I910V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). I910V results in increased cell proliferation and cell viability compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
inact mut unknown loss of function PIK3CA inact mut indicates that this variant results in a loss of function of the Pik3ca protein. However, the specific amino acid change has not been identified.
K111del deletion gain of function - predicted PIK3CA K111del results in the deletion of one amino acid in the Pik3ca protein at amino acid 111 (UniProt.org). K111del has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
K111E missense gain of function PIK3CA K111E lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). K111E confers a gain of function on the Pik3ca protein as indicated by increased lipid kinase activity and phosphorylation of Akt in cell culture (PMID: 22949682, PMID: 21266528) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
K111N missense gain of function PIK3CA K111N lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). K111N results in increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
K111R missense unknown PIK3CA K111R does not lie within any known functional domains of the Pik3ca protein (UniProt.org). K111R has been identified in sequencing studies (PMID: 28027320, PMID: 27641744, PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
K179T missense unknown PIK3CA K179T does not lie within any known functional domains of the Pik3ca protein (UniProt.org). K179T has been identified in sequencing studies (PMID: 18224685), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
K51N missense no effect - predicted PIK3CA K51N lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). K51N did not result in increased cell proliferation in culture compared to wild-type Pik3ca and therefore, is predicted to have no effect on Pik3ca protein function (PMID: 29636477).
K567R missense unknown PIK3CA K567R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). K567R has been identified in the scientific literature (PMID: 17314276), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
K944N missense gain of function - predicted PIK3CA K944N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). K944N results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function. Y
K966E missense gain of function - predicted PIK3CA K966E lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). K966E results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function. Y
L113del deletion unknown PIK3CA L113del results in the deletion of one amino acid of the Pik3ca protein at amino acid 113 (UniProt.org). L113del has been identified in sequencing studies (PMID: 30138724, PMID: 31980592), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
L339I missense unknown PIK3CA L339I lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). L339I has been identified in the scientific literature (PMID: 25078343, PMID: 28978093, PMID: 28027320), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
L456Afs*13 frameshift unknown PIK3CA L456Afs*13 indicates a shift in the reading frame starting at amino acid 456 and terminating 13 residues downstream causing a premature truncation of the 1068 amino acid Pik3ca protein (UniProt.org). L456Afs*13 results in decreased transformation ability in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
L456R missense unknown PIK3CA L456R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). L456R has been identified in sequencing studies (PMID: 25528496, PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
L766F missense no effect - predicted PIK3CA L766F does not lie within any known functional domains of the Pik3ca protein (UniProt.org). L766F has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
L866F missense unknown PIK3CA L866F lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). L866F has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
L938* nonsense gain of function - predicted PIK3CA L938* results in a premature truncation of the Pik3ca protein at amino acid 938 of 1068 (UniProt.org). L938* results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function.
M1004I missense unknown PIK3CA M1004I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1004I results in increased cell proliferation and cell viability compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
M1040I missense unknown PIK3CA M1040I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1040I has been identified in the scientific literature (PMID: 28240010, PMID: 25119929, PMID: 23558893), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
M1040V missense no effect - predicted PIK3CA M1040V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1040V has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
M1043I missense gain of function PIK3CA M1043I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043I confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt, activation of downstream signaling, and transformation in cell culture (PMID: 17376864, PMID: 29533785).
M1043L missense gain of function - predicted PIK3CA M1043L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043L has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
M1043T missense unknown PIK3CA M1043T lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043T has been identified in sequencing studies (PMID: 28830922, PMID: 25528496, PMID: 23370426), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
M1043V missense gain of function PIK3CA M1043V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043V results in increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
mutant unknown unknown PIK3CA mutant indicates an unspecified mutation within the PIK3CA gene.
N1000D missense unknown PIK3CA N1000D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1000D has been identified in the scientific literature (PMID: 22949056, PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N1044D missense unknown PIK3CA N1044D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044D has been identified in the scientific literature (PMID: 27468883, PMID: 18180098), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N1044K missense gain of function PIK3CA N1044K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044K confers a gain of function to Pik3ca protein as indicated by increased cell survival and transforming ability in cell culture (PMID: 26627007, PMID: 29533785).
N1044S missense unknown PIK3CA N1044S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044S has been identified in the scientific literature (PMID: 17050665, PMID: 26085511, PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N1044Y missense unknown PIK3CA N1044Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044Y has been identified in the scientific literature (PMID: 29636477, PMID: 27191687, PMID: 27548314), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
N1068fs frameshift gain of function PIK3CA N1068fs results in a change in the amino acid sequence of the Pik3ca protein beginning at the stop codon, aa 1068 (UniProt.org). N1068fs (reported as N1068fs*4) confers a gain of function to the Pik3ca protein, as demonstrated by activation of Akt/mTor signaling and tumorigenesis in transgenic animal models (PMID: 21703185).
N1068Kfs*5 frameshift gain of function - predicted PIK3CA N1068Kfs*5 indicates a shift in the reading frame starting at the Pik3ca stop codon that results in the addition of 5 amino acids to the 1068 aa Pik3ca protein (UniProt.org). N1068Kfs*5 has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
N170S missense unknown PIK3CA N170S does not lie within any known functional domains of the Pik3ca protein (UniProt.org). N170S has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N345D missense unknown PIK3CA N345D lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345D has been identified in the scientific literature (PMID: 30562681, PMID: 27034166), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N345H missense unknown PIK3CA N345H lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345H has been identified in the scientific literature (PMID: 25846456, PMID: 30181556, PMID: 26650777), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N345I missense gain of function - predicted PIK3CA N345I lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345I results in increased cell survival, but was not transforming in cell culture in one study (PMID: 26627007), but in two other studies, N345I demonstrated increased transformation ability in multiple cell lines compared to wild-type Pik3ca (PMID: 29533785, PMID: 29636477), and therefore, is predicted to result in a gain of Pik3ca protein function.
N345K missense gain of function PIK3CA N345K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345K results in increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
N345S missense unknown PIK3CA N345S lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345S has been identified in the scientific literature (PMID: 25769001, PMID: 28222664, PMID: 27283993), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N345T missense gain of function - predicted PIK3CA N345T lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345T has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
N345Y missense unknown PIK3CA N345Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345Y has been identified in sequencing studies (PMID: 30181556, PMID: 29338072, PMID: 27502722), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N347K missense unknown PIK3CA N347K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N347K has been identified in sequencing studies (PMID: 29558370, PMID: 25078343), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
N457K missense unknown PIK3CA N457K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N457K has been identified in the scientific literature (PMID: 29636477, PMID: 19844788), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
over exp none no effect PIK3CA over exp indicates an over expression of the Pik3ca protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P104L missense gain of function - predicted PIK3CA P104L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). P104L has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
P124L missense gain of function - predicted PIK3CA P124L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). P124L results in activation of Pik3ca signaling as indicated by increased Akt phosphorylation in culture (PMID: 22430209) and therefore, is predicted to result in a gain of Pik3ca protein function.
P217S missense unknown PIK3CA P217S lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). P217S has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P298S missense unknown PIK3CA P298S does not lie within any known functional domains of the Pik3ca protein (UniProt.org). P298S has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P366R missense gain of function - predicted PIK3CA P366R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P366R has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
P377R missense unknown PIK3CA P377R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P377R has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P421L missense unknown PIK3CA P421L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P421L has been identified in sequencing studies (PMID: 30275180, PMID: 20049837), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P447_L455del deletion gain of function PIK3CA P447_L455del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 447 to 455 (UniProt.org). P447_L455del confers a gain of function to the Pik3ca protein as demonstrated by transformation in culture and activation of the PI3K/Akt/Mtor pathway via increased phosphorylation of Akt, Erk, P70S6K, and P90RSK (PMID: 21266528, PMID: 29284706).
P449L missense unknown PIK3CA P449L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P449L has been identified in sequencing studies (PMID: 29032825, PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P449S missense unknown PIK3CA P449S lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P449S has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P449T missense gain of function - predicted PIK3CA P449T lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P449T results in increased Pik3ca kinase activity in culture (PMID: 20530683) and therefore, is predicted to result in a gain of Pik3ca protein function.
P449_L455del deletion gain of function PIK3CA P449_L455del results in the deletion of seven amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 449 to 455 (UniProt.org). P449_L455del results in increased Akt phosphorylation in cell culture relative to wild-type Pik3ca in culture (PMID: 21266528) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
P449_N457del deletion gain of function - predicted PIK3CA P449_N457del results in the deletion of nine amino acids in the Pik3ca protein from amino acids 449 to 457 (UniProt.org). P449_N457del has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
P466S missense unknown PIK3CA P466S lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P466S has been identified in sequencing studies (PMID: 25759019, PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
P471L missense gain of function - predicted PIK3CA P471L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P471L has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
P487Q missense unknown PIK3CA P487Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P487Q results in decreased cell proliferation and cell viability compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
P539R missense gain of function PIK3CA P539R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). P539R increases the stability of the Pik3ca protein, confers a gain of function, as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 18951408, PMID: 17376864, PMID: 29533785).
P539S missense unknown PIK3CA P539S lies within the PIK helical domain of the Pik3ca protein (UniProt.org). P539S has been identified in the scientific literature (PMID: 22292935, PMID: 31254045, PMID: 22982087), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
positive unknown unknown PIK3CA positive indicates the presence of the PIK3CA gene, mRNA and/or protein.
Q1033R missense unknown PIK3CA Q1033R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Q1033R has been identified in the scientific literature (PMID: 32193631), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2020).
Q546E missense gain of function - predicted PIK3CA Q546E lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546E has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased cell survival and transforming ability in cell culture (PMID: 26627007, PMID: 29533785).
Q546H missense unknown PIK3CA Q546H lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546H has been identified in the scientific literature (PMID: 19148475, PMID: 28860563, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Q546K missense gain of function PIK3CA Q546K lies within the PIK helical domain of the Pik3ca protein (UniProt.org, PMID: 17376864). Q546K confers a gain of function to Pik3ca as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
Q546L missense gain of function - predicted PIK3CA Q546L lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546L has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
Q546P missense gain of function PIK3CA Q546P lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546P results in increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
Q546R missense gain of function - predicted PIK3CA Q546R lies within the helical domain of the Pik3ca protein (PMID: 24559118). Q546R has not been biochemically characterized, but is predicted to confer a gain of function to the Pik3ca protein as demonstrated by increased cell survival and transforming ability in cell culture (PMID: 26627007, PMID: 29533785).
Q546X missense unknown PIK3CA Q546X indicates any PIK3CA missense mutation that results in replacement of the glutamine (Q) at amino acid 546 by a different amino acid.
Q546_E547insQTS insertion unknown PIK3CA Q546_E547insQTS results in the insertion of three amino acids in the PIK helical domain of the Pik3ca protein between amino acids 546 and 547 (UniProt.org). Q546_E547insQTS has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Q60K missense no effect PIK3CA Q60K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Q60K demonstrates kinase activity and transformation potential similar to wild-type Pik3ca protein (PMID: 18074223, PMID: 29533785).
Q643H missense unknown PIK3CA Q643H lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q643H has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Q75E missense unknown PIK3CA Q75E lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Q75E has been identified in the scientific literature (PMID: 25528496, PMID: 30333046, PMID: 28781987), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Q75K missense unknown PIK3CA Q75K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Q75K has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R1023L missense unknown PIK3CA R1023L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R1023L has been identified in the scientific literature (PMID: 19844788), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R1023Q missense unknown PIK3CA R1023Q lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R1023Q has been identified in the scientific literature (PMID: 27699769, PMID: 18782444, PMID: 24092809), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R108C missense unknown PIK3CA R108C lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108C results in increased transformation ability as compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R108del deletion unknown PIK3CA R108del results in the deletion of one amino acid in the p85 domain of the Pik3ca protein at amino acid 108 (PMID: 15016963). R108del has been identified in the scientific literature (PMID: 29181861, PMID: 30537512, PMID: 27161972), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R108H missense gain of function PIK3CA R108H lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108H results in increased phosphorylation of Akt, activation of downstream signaling in cell culture (PMID: 18829572), and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
R108L missense no effect - predicted PIK3CA R108L lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108L has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
R108P missense unknown PIK3CA R108P lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108P has been identified in sequencing studies (PMID: 15016963), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R115* nonsense loss of function - predicted PIK3CA R115* results in a premature truncation of the Pik3ca protein at amino acid 115 of 1068 (UniProt.org). Due to the loss of multiple functional domains, including the protein kinase domain (UniProt.org), R115* is predicted to lead to a loss of function.
R115L missense gain of function PIK3CA R115L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R115L confers a gain of function to the Pik3ca protein as demonstrated by increased cell growth, activation of the PI3K pathway (PMID: 23619167), and increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
R357Q missense unknown PIK3CA R357Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R357Q has been identified in sequencing studies (PMID: 25233892, PMID: 23528559, PMID: 28446505), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R382K missense no effect - predicted PIK3CA R382K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R382K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
R38C missense gain of function PIK3CA R38C lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38C confers a gain of function to Pik3ca, as indicated by increased phosphorylation of downstream targets Akt, GSK3-beta, FoxO1, FoxO3a, and S6 in cell culture (PMID: 18829572) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
R38G missense unknown PIK3CA R38G lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38G has been identified in the scientific literature (PMID: 27425854, PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R38H missense gain of function - predicted PIK3CA R38H lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38H results in moderate increase of Pik3ca kinase activity and Akt phosphorylation, but is not transforming in cell culture (PMID: 15930273), however in another study, R38H increased transformation in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
R38S missense unknown PIK3CA R38S lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38S is predicted to disrupt the enzymatic activity of Pik3ca by structural modeling (PMID: 18079394), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
R398H missense no effect - predicted PIK3CA R398H lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R398H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
R401Q missense unknown PIK3CA R401Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R401Q has been identified in sequencing studies (PMID: 29575851), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2020).
R425L missense unknown PIK3CA R425L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R425L has been identified in the scientific literature (PMID: 28167203), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2020).
R524M missense unknown PIK3CA R524M lies within the PIK helical domain of the Pik3ca protein (UniProt.org). R524M has been identified in the scientific literature (PMID: 16822308), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R617W missense unknown PIK3CA R617W lies within the PIK helical domain of the Pik3ca protein (UniProt.org). R617W has been identified in sequencing studies (PMID: 23765252, PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R770Q missense unknown PIK3CA R770Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R770Q has been identified in the scientific literature (PMID: 26681737, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R777M missense unknown PIK3CA R777M does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R777M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R818C missense no effect - predicted PIK3CA R818C lies within the PI3K/PI4K protein kinase domain of the Pik3ca protein (UniProt.org). R818C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
R88L missense unknown PIK3CA R88L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R88L has been identified in sequencing studies (PMID: 28002797, PMID: 27672108), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R88Q missense gain of function PIK3CA R88Q lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R88Q confers a gain of function to the Pik3ca protein as indicated by increased phosphorylation of downstream targets Akt and S6 (PMID: 18829572) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
R916C missense unknown PIK3CA R916C lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R916C has been identified in the scientific literature (PMID: 30150660, PMID: 24356096, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R93L missense unknown PIK3CA R93L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R93L has been identified in sequencing studies (PMID: 26401016, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
R93P missense gain of function - predicted PIK3CA R93P lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R93P has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
R93Q missense no effect - predicted PIK3CA R93Q lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R93Q results in Akt phosphorylation to levels similar to wild-type Pik3ca in cell culture (PMID: 21266528) and therefore, is predicted to have no effect on Pik3ca protein function.
R93W missense gain of function PIK3CA R93W lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R93W confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt in cell culture (PMID: 21266528) and increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
R975S missense unknown PIK3CA R975S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). The functional effect of R975S is conflicting, as it results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785), but in another study, induced moderate cell growth (PMID: 23619167) and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jul 2020).
R992P missense unknown PIK3CA R992P lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R992P has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
S332_L334del deletion loss of function - predicted PIK3CA S332_L334del results in the deletion of three amino acids in the Pik3ca protein from amino acids 332 to 334 (UniProt.org). S332_L334del has not been biochemically characterized, but is predicted to confer a loss of function on the Pik3ca protein as demonstrated by decreased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
S405F missense unknown PIK3CA S405F lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). S405F has been identified in sequencing studies (PMID: 24695838, PMID: 27738081, PMID: 26226847), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
S405Y missense unknown PIK3CA S405Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). S405Y has been identified in sequencing studies (PMID: 30337457), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Sep 2020).
S553N missense unknown PIK3CA S553N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). S553N has been identified in sequencing studies (PMID: 24983367, PMID: 23665199, PMID: 23066039), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
S629C missense gain of function - predicted PIK3CA S629C lies within the PIK helical domain of the Pik3ca protein (UniProt.org). S629C has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
S773F missense unknown PIK3CA S773F does not lie within any known functional domains of the Pik3ca protein (UniProt.org). S773F has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
S900I missense unknown PIK3CA S900I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). S900I has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
T1025A missense gain of function - predicted PIK3CA T1025A lies within the PI3K/PI4K kinase domain of the Pik3ca protein (UniProt.org). T1025A has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
T1025I missense unknown PIK3CA T1025I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). T1025I has been identified in sequencing studies (PMID: 25680416, PMID: 22949056, PMID: 21726664), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
T1025K missense unknown PIK3CA T1025K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). T1025K has been identified in sequencing studies (PMID: 27672108), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
T1025N missense gain of function - predicted PIK3CA T1025N lies within the PI3K/PI4K protein kinase domain of the Pik3ca protein (UniProt.org). T1025N has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
T1025S missense gain of function PIK3CA T1025S lies within the PI3K/PI4K domain in the Pik3ca protein (UniProt.org). T1025S confers a gain of function to the Pik3ca protein as indicated by constitutive activation of downstream signaling and transformation in cultured cells (PMID: 17376864).
T1052K missense unknown PIK3CA T1052K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). T1052K has been identified in the scientific literature (PMID: 31410178, PMID: 21725289, PMID: 27672108), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jul 2020).
T324I missense unknown PIK3CA T324I does not lie within any known functional domains of the Pik3ca protein (UniProt.org). T324I has been identified in the scientific literature (PMID: 16778113, PMID: 18376308, PMID: 18343945), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
T544I missense unknown PIK3CA T544I lies within the PIK helical domain of the Pik3ca protein (UniProt.org). T544I has been identified in the scientific literature (PMID: 25073438, PMID: 26276776, PMID: 22357840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
T544N missense unknown PIK3CA T544N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). T544N has been identified in the scientific literature (PMID: 26276776, PMID: 25722288, PMID: 22357840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
V105_R108del deletion gain of function - predicted PIK3CA V105_R108del results in the deletion of four amino acids in the Pik3ca protein from amino acids 105 to 108 (UniProt.org). V105_R108del has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
V146I missense unknown PIK3CA V146I does not lie within any known functional domains of the Pik3ca protein (UniProt.org). V146I has been identified in the scientific literature (PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
V344A missense unknown PIK3CA V344A lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). V344A results in Akt phosphorylation similar to wild-type Pik3ca in culture (PMID: 21266528), however, results in increased transformation compared to wild-type Pik3ca in two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown.
V344G missense gain of function - predicted PIK3CA V344G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). V344G has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
V344M missense gain of function - predicted PIK3CA V344M lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). V344M has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
V356I missense no effect - predicted PIK3CA V356I lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). V356I has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
V952A missense gain of function - predicted PIK3CA V952A lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). V952A results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function. Y
V955G missense gain of function - predicted PIK3CA V955G lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). V955G results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function. Y
V955I missense gain of function - predicted PIK3CA V955I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). V955I results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to Erbitux (cetuximab) in culture (PMID: 28424201) and therefore, is predicted to result in a gain of Pik3ca protein function. Y
W11L missense no effect - predicted PIK3CA W11L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). W11L has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pik3ca (PMID: 29533785) and therefore, is predicted to have no effect on Pik3ca protein function.
W552G missense unknown PIK3CA W552G lies within the PIK helical domain of the Pik3ca protein (UniProt.org). W552G has been identified in the scientific literature (PMID: 24983367, PMID: 16778113), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
wild-type none no effect Wild-type PIK3CA indicates that no mutation has been detected within the PIK3CA gene.
Y1021C missense unknown PIK3CA Y1021C lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021C results in increased transformation ability compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
Y1021F missense unknown PIK3CA Y1021F lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021F has been identified in the scientific literature (PMID: 22949056, PMID: 24983367, PMID: 24440717), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Y1021H missense unknown PIK3CA Y1021H lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021H has been identified in the scientific literature (PMID: 18084252, PMID: 28222664, PMID: 27302833), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Y1021N missense unknown PIK3CA Y1021N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021N has been identified in the scientific literature (PMID: 22949056, PMID: 28502728, PMID: 15289301), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Y165H missense unknown PIK3CA Y165H does not lie within any known functional domains of the Pik3ca protein (UniProt.org). PIK3CA Y165H has been identified in sequencing studies (PMID: 27548314), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).
Y272* nonsense loss of function - predicted PIK3CA Y272* results in a premature truncation of the Pik3ca protein at amino acid 272 of 1068 (UniProt.org). Due to the loss of multiple functional domains in the Pik3ca protein (UniProt.org), Y272* is predicted to lead to a loss of function.
Y56H missense unknown PIK3CA Y56H lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Y56H has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2020).