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Gene Symbol GNA11
Synonyms FBH | FBH2 | FHH2 | GNA-11 | HHC2 | HYPOC2
Gene Description GNA11, G protein subunit alpha 11, is a guanine nucleotide-binding protein (G protein) subunit, which is activated following ligand binding to G-protein coupled receptors and functions in cell signaling (PMID: 27148356). GNA11 hotspot mutations impair intrinsic Gna11 GTPase activity, resulting in constitutive pathway activation and are common in uveal melanoma (PMID: 23640210, PMID: 27148356, PMID: 29209985).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A110G missense unknown GNA11 A110G lies within the G-alpha domain of the Gna11 protein (UniProt.org). A110G has not been characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
A168T missense unknown GNA11 A168T lies within the G-alpha domain of the Gna11 protein (UniProt.org). A168T has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
A342T missense unknown GNA11 A342T lies within the G-alpha domain of the Gna11 protein (UniProt.org). A342T has been identified in sequencing studies (PMID: 29127303), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
act mut unknown unknown GNA11 act mut indicates that the variant results in activation of GNA11 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 GNA11 amplification indicates an increased number of copies of the GNA11 gene. However, the mechanism causing the increase is unspecified.
D195N missense unknown GNA11 D195N lies within the G-alpha domain of the Gna11 protein (UniProt.org). D195N has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
D333N missense unknown GNA11 D333N lies within the G-alpha domain of the Gna11 protein (UniProt.org). D333N has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
E221Q missense unknown GNA11 E221Q lies within the G-alpha domain of the Gna11 protein (UniProt.org). E221Q has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
E245K missense unknown GNA11 E245K lies within the G-alpha domain of the Gna11 protein (UniProt.org). E245K has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
E294* nonsense loss of function - predicted GNA11 E294* results in a premature truncation of the Gna11 protein at amino acid 294 of 359 (UniProt.org). Due to disruption of the GTPase domain (PMID: 27647839) , E294* is predicted to lead to a loss of Gna11 protein function.
E294A missense unknown GNA11 E294A lies within the G-alpha domain of the Gna11 protein (UniProt.org). E294A has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
E4K missense unknown GNA11 E4K does not lie within any known functional domains of the Gna11 protein (UniProt.org). E4K has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
exon5 unknown unknown GNA11 exon 5 indicates an unspecified mutation has occurred in exon 5 of the GNA11 gene.
F341L missense loss of function - predicted GNA11 F341L does not lie within any known functional domains of the Gna11 protein (UniProt.org). F341L results in increased sensitivity to extracellular calcium in cells expressing calcium-sensitive receptors and calcium-dependent increase of Erk phosphorylation in cell culture (PMID: 23802516, PMID: 26994139), and therefore, is predicted to lead to a loss of Gna11 protein function.
G171S missense unknown GNA11 G171S lies within the G-alpha domain of the Gna11 protein (UniProt.org). G171S has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
G208Afs*16 frameshift loss of function - predicted GNA11 G208Afs*16 indicates a shift in the reading frame starting at amino acid 208 and terminating 16 residues downstream causing a premature truncation of the 359 amino acid Gna11 protein (UniProt.org). Due to the disruption of the GTPase domain (PMID: 27647839), G208Afs*16 is predicted to lead to a loss of Gna11 protein function.
G66S missense unknown GNA11 G66S lies within the G-alpha domain of the Gna11 protein (UniProt.org). G66S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
H327R missense unknown GNA11 H327R lies within the G-alpha domain of the Gna11 protein (UniProt.org). H327R has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
I132V missense unknown GNA11 I132V lies within the G-alpha domain of the Gna11 protein (UniProt.org). I132V has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
I56M missense unknown GNA11 I56M lies within the G-alpha domain of the Gna11 protein (UniProt.org). I56M has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
I56V missense unknown GNA11 I56V lies within the G-alpha domain of the Gna11 protein (UniProt.org). I56V has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
inact mut unknown loss of function GNA11 inact mut indicates that the variant results in failure to activate GNA11 downstream signaling. However, the specific amino acid change has not been identified.
K275N missense unknown GNA11 K275N lies within the G-alpha domain of the Gna11 protein (UniProt.org). K275N has not been characterized in the scientific literature and therefore, its effect on GNA11 protein function is unknown (PubMed, Apr 2020).
K57Q missense unknown GNA11 K57Q lies within the G-alpha domain of the Gna11 protein (UniProt.org). K57Q has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
L135P missense unknown GNA11 L135P lies within the G-alpha domain of the Gna11 protein (UniProt.org). L135P has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
L351P missense unknown GNA11 L351P lies within the G-alpha domain of the Gna11 protein (UniProt.org). L351P has been identified in sequencing studies (PMID: 29636988), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
M203L missense unknown GNA11 M203L lies within the G-alpha domain of the Gna11 protein (UniProt.org). M203L has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
mutant unknown unknown GNA11 mutant indicates an unspecified mutation in the GNA11 gene.
P293S missense unknown GNA11 P293S lies within the G-alpha domain of the Gna11 protein (UniProt.org). P293S has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
P318L missense unknown GNA11 P318L lies within the G-alpha domain of the Gna11 protein (UniProt.org). P318L has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
Q209* nonsense loss of function - predicted GNA11 Q209* results in a premature truncation of the Gna11 protein at amino acid 209 of 359 (UniProt.org). Due to disruption of the GTPase domain (PMID: 27647839), Q209* is predicted to lead to a loss of Gna11 protein function.
Q209H missense unknown GNA11 Q209H lies within a GTP-binding region and G3 motif of the Gna11 protein (UniProt.org). Q209H has been identified in the scientific literature (PMID: 30601876), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Jul 2020).
Q209K missense unknown GNA11 Q209K lies within a GTP-binding region and G3 motif of the Gna11 protein (UniProt.org). Q209K has been identified in sequencing studies (PMID: 22722839, PMID: 30885336), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Jul 2020).
Q209L missense loss of function GNA11 Q209L is a hotspot mutation that lies within a GTP binding region of the Gna11 protein (UniProt.org). Q209L results in a loss of Gna11 protein function as indicated by activation of downstream signaling in culture (PMID: 26778290) and increased tumor growth in mouse models (PMID: 21083380, PMID: 24141786, PMID: 23640210).
Q209P missense unknown GNA11 Q209P lies within a GTP-binding region and G3 motif of the Gna11 protein (UniProt.org). Q209P has been identified in the scientific literature (PMID: 26368812, PMID: 27498141), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Jun 2020).
Q209R missense unknown GNA11 Q209R lies within a GTP-binding region and the G3 motif of the Gna11 protein (UniProt.org). Q209R has been identified in sequencing studies (PMID: 23778528, PMID: 27498141), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Jun 2020).
Q209X missense unknown GNA11 Q209X indicates any GNA11 missense mutation that results in replacement of the glutamine (Q) at amino acid 209 by a different amino acid.
R114W missense unknown GNA11 R114W lies within the G-alpha domain of the Gna11 protein (UniProt.org). R114W has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
R166H missense unknown GNA11 R166H lies within the G-alpha domain of the Gna11 protein (UniProt.org). R166H has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
R181Q missense loss of function - predicted GNA11 R181Q lies within a GTP binding region of the Gna11 protein (UniProt.org). R181Q results in increased sensitivity to extracellular calcium in cells expressing calcium-sensitive receptors and calcium-dependent increase of Erk phosphorylation in cell culture (PMID: 23802516, PMID: 26994139), and therefore, is predicted to lead to a loss of Gna11 protein function.
R183C missense loss of function GNA11 R183C is a hotspot mutation that lies within a GTP binding region of the Gna11 protein (UniProt.org). R183C results in a loss of Gna11 protein function as indicated by activation of downstream signaling in culture, and increased tumor growth in mouse models (PMID: 21083380, PMID: 26778290, PMID: 23640210).
R183H missense unknown GNA11 R183H lies within a GTP-binding region and the G2 motif of the Gna11 protein (UniProt.org). R183H has been identified in sequencing studies (PMID: 23640210), but has not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Jun 2020).
R183Q missense loss of function - predicted GNA11 R183Q lies within a GTP binding region of the Gna11 protein (UniProt.org). R183Q activates Yap signaling in cell culture in one study (PMID: 24882516), and therefore, is predicted to lead to a loss of Gna11 protein function.
R183X missense unknown GNA11 R183X indicates any GNA11 missense mutation that results in replacement of the arginine (R) at amino acid 183 by a different amino acid.
R256Gfs*55 frameshift loss of function - predicted GNA11 R256Gfs*55 indicates a shift in the reading frame starting at amino acid 256 and terminating 55 residues downstream causing a premature truncation of the 359 amino acid Gna11 protein (UniProt.org). Due to disruption of the GTPase domain (PMID: 27647839), R256Gfs*55 is predicted to lead to a loss of Gna11 protein function.
R338C missense unknown GNA11 R338C lies within the G-alpha domain of the Gna11 protein (UniProt.org). R338C has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
S130G missense unknown GNA11 S130G lies within the G-alpha domain of the Gna11 protein (UniProt.org). S130G has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
S130Vfs*32 frameshift loss of function - predicted GNA11 S130Vfs*32 indicates a shift in the reading frame starting at amino acid 130 and terminating 32 residues downstream causing a premature truncation of the 359 amino acid Gna11 protein (UniProt.org). Due to the loss of the majority of the GTP binding regions (UniProt.org), S130Vfs*32 is predicted to lead to a loss of Gna11 protein function.
S18F missense unknown GNA11 S18F does not lie within any known functional domains of the Gna11 protein (UniProt.org). S18F has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
S268A missense unknown GNA11 S268A lies within the G-alpha domain of the Gna11 protein (UniProt.org). S268A has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
S268F missense unknown GNA11 S268F lies within the G-alpha domain of the Gna11 protein (UniProt.org). S268F has been identified in the scientific literature (PMID: 26994145), but not been biochemically characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
V164G missense unknown GNA11 V164G lies within the G-alpha domain of the Gna11 protein (UniProt.org). V164G has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
V269I missense unknown GNA11 V269I lies within the G-alpha domain of the Gna11 protein (UniProt.org). V269I has not been characterized in the scientific literature and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
V344M missense unknown GNA11 V344M lies within the G-alpha domain of the Gna11 protein (UniProt.org). V344M has been identified in the scientific literature (PMID: 27756406), but has not been characterized and therefore, its effect on Gna11 protein function is unknown (PubMed, Apr 2020).
wild-type none no effect Wild-type GNA11 indicates that no mutation has been detected within the GNA11 gene.
Y235* nonsense loss of function - predicted GNA11 Y235* results in a truncation of the Gna11 protein at aa 235 of 359 (UniProt.org). Due to disruption of the GTPase domain (PMID: 27647839) , Y235* is predicted to lead to a loss of Gna11 protein function.