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Gene Symbol GNAS
Synonyms AHO | C20orf45 | GNAS1 | GPSA | GSA | GSP | NESP | PITA3 | POH | SCG6 | SgVI
Gene Description GNAS, GNAS complex locus, is a GTPase that is activated upon ligand binding of a G-protein coupled receptor, and is involved in mediating hormone response (PMID: 23640210, PMID: 25851935). Hotspot mutations impair Gnas GTPase activity, resulting in constitutive pathway activation and are common in a variety of tumor types (PMID: 23640210).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown unknown GNAS act mut indicates that the variant results in activation of GNAS downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (loss of function) or increased nucleotide exchange rate (gain of function).
amp none no effect GNAS amp indicates an increased number of copies of the GNAS gene. However, the mechanism causing the increase is unspecified.
D173N missense loss of function GNAS D173N does not lie within any known functional domains of the Gnas protein (UniProt.org). D173N results in defective nucleotide binding to Gnas, leading to inactivation of downstream signaling in culture (PMID: 24982418, PMID: 18812479).
G801R missense unknown GNAS G801R does not lie within any known functional domains of the Gnas protein (UniProt.org). G801R has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Feb 2020).
inact mut unknown loss of function GNAS inact mut indicates that the variant results in failure to activate GNAS downstream signaling. However, the specific amino acid change has not been identified.
K338R missense unknown GNAS K338R lies within the Ras-like domain of the Gnas protein (PMID: 25802881). K338R has not been characterized in the scientific literature and therefore, its effect on Gnas protein function is unknown (PubMed, Oct 2018).
Q227E missense unknown GNAS Q227E (corresponding to Q870E in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). Q227E has been identified in the scientific literature (PMID: 23640210), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
Q227H missense unknown GNAS Q227H (corresponding to Q870H in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). Q227H has been identified in sequencing studies (PMID: 23370769), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
Q227K missense unknown GNAS Q227K (corresponding to Q870K in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). Q227K has been identified in sequencing studies (PMID: 23370769), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
Q227L missense loss of function GNAS Q227L (corresponding to Q870L in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). Q227L results in a loss of GNAS GTPase activity, resulting in increased cAMP and activation of downstream transcription in cell culture (PMID: 8077218, PMID: 2549065).
Q227R missense unknown GNAS Q227R (corresponding to Q870R in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). Q227R has been identified in sequencing studies (PMID: 23370769), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
Q227X missense unknown GNAS Q227X (corresponding to Q870X in isoform XLas-1) indicates any amino acid change at position 227 within a GTP binding region of the Gnas protein (UniProt.org).
R201C missense loss of function GNAS R201C (corresponding to R844C in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). R201C results in a loss of the GTPase activity of Gnas leading to constitutive downstream pathway activation, cell proliferation, and tumor formation in mouse models (PMID: 20531296, PMID: 24498230).
R201G missense unknown GNAS R201G (corresponding to R844G in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). R201G has been identified in the scientific literature (PMID: 10571700), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
R201H missense loss of function GNAS R201H (corresponding to R844H in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). R201H results in a loss of the GTPase activity of Gnas, leading to constitutive downstream pathway activation in culture (PMID: 2549426).
R201L missense unknown GNAS R201L (corresponding to R844L in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). R201L has been identified in sequencing studies (PMID: 7751320), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
R201S missense unknown GNAS R201S (corresponding to R844S in isoform XLas-1) lies within a GTP binding region of the Gnas protein (UniProt.org). R201S has been identified in sequencing studies (PMID: 11254676), but has not been biochemically characterized and therefore, its effect on Gnas protein function is unknown (PubMed, Nov 2018).
R265H missense loss of function GNAS R265H lies within the Ras-like domain of the Gnas protein (PMID: 25802881). R265H results in defective nucleotide binding, loss of GTP hydrolysis activity of Gnas, leading to inactivation of downstream signaling in culture (PMID: 24982418).
R6P missense no effect - predicted GNAS R6P (present in isoform Nesp55) does not lie within any known functional domains of the Gnas protein (UniProt.org). R6P results in similar cell proliferation and viability levels to wild-type Gnas in culture in one study (PMID: 29533785), and therefore, is predicted to have no effect on Gnas protein function.
T225P missense no effect - predicted GNAS T225P (present in isoform Nesp55) does not lie within any known functional domains of the Gnas protein (UniProt.org). T225P results in similar cell proliferation and viability levels to wild-type Gnas in culture in one study (PMID: 29533785), and therefore, is predicted to have no effect on Gnas protein function.
wild-type none no effect Wild-type GNAS indicates that no mutation has been detected within the GNAS gene.