rs121913492
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side.
|
26368812 |
2015 |
rs121913492
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.
|
22733540 |
2012 |
rs121913492
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma.
|
30558566 |
2018 |
rs121913492
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ(Q209) mutations in human epithelial melanomas.
|
26113083 |
2015 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.
|
2549426 |
1989 |
rs121913492
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways.
|
22653968 |
2012 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma.
|
22253748 |
2012 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma.
|
22253748 |
2012 |
rs121913492
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Oncogenic mutations in GNAQ occur early in uveal melanoma.
|
18719078 |
2008 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.
|
22733540 |
2012 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype.
|
22808163 |
2012 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells.
|
1328859 |
1992 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Oncogenic mutations in GNAQ occur early in uveal melanoma.
|
18719078 |
2008 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.
|
2549426 |
1989 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways.
|
22653968 |
2012 |
rs121913492
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype.
|
22808163 |
2012 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
|
19078957 |
2009 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.
|
22733540 |
2012 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells.
|
1328859 |
1992 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Oncogenic mutations in GNAQ occur early in uveal melanoma.
|
18719078 |
2008 |
rs121913492
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.
|
2549426 |
1989 |
rs121913492
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Mutations in GNA11 in uveal melanoma.
|
21083380 |
2010 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways.
|
22653968 |
2012 |
rs121913492
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.
|
22733540 |
2012 |
rs121913492
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Mutations in GNA11 in uveal melanoma.
|
21083380 |
2010 |