Gene: GNA11 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519742
rs1057519742
GNA11
0.750 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
dbSNP: rs1057519742
rs1057519742
GNA11
0.750 GeneticVariation BEFREE To our knowledge, this is the first case report to demonstrate cutaneous origin melanoma harboring a GNA11 Q209L mutation. 26825879

2016
dbSNP: rs1057519742
rs1057519742
GNA11
0.750 GeneticVariation BEFREE The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side. 26368812

2015
dbSNP: rs1057519742
rs1057519742
GNA11
0.750 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
dbSNP: rs1057519742
rs1057519742
GNA11
0.750 GeneticVariation BEFREE Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012