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NF1 GTPase mutants [cytosol]
Stable Identifier
R-HSA-6802562
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
Oncogenic MAPK signaling (Homo sapiens)
RAS signaling downstream of NF1 loss-of-function variants (Homo sapiens)
Loss-of-function NF1 variants don't stimulate RAS GTPase activity (Homo sapiens)
NF1 GTPase mutants:SPRED dimer:p21 RAS:GTP [plasma membrane] (Homo sapiens)
NF1 GTPase mutants [cytosol] (Homo sapiens)
Participants
members
NF1 R1276P [cytosol]
(Homo sapiens)
NF1 R816* [cytosol]
(Homo sapiens)
NF1 F1464L [cytosol]
(Homo sapiens)
NF1 R1412S [cytosol]
(Homo sapiens)
NF1 K1444E [cytosol]
(Homo sapiens)
NF1 L1187I [cytosol]
(Homo sapiens)
candidates
NF1 A131Vfs*19 [cytosol]
(Homo sapiens)
NF1 E133Nfs*32 [cytosol]
(Homo sapiens)
NF1 C324* [cytosol]
(Homo sapiens)
NF1 C845Vfs*33 [cytosol]
(Homo sapiens)
NF1 G1133Dfs*61 [cytosol]
(Homo sapiens)
NF1 I1009Ffs*3 [cytosol]
(Homo sapiens)
NF1 Q616Gfs*4 [cytosol]
(Homo sapiens)
NF1 R1241* [cytosol]
(Homo sapiens)
NF1 R69Nfs*7 [cytosol]
(Homo sapiens)
NF1 S1053* [cytosol]
(Homo sapiens)
NF1 S980* [cytosol]
(Homo sapiens)
NF1 R1276* [cytosol]
(Homo sapiens)
NF1 R1276Q [cytosol]
(Homo sapiens)
NF1 R1276L [cytosol]
(Homo sapiens)
NF1 R1534* [cytosol]
(Homo sapiens)
NF1 R1534Q [cytosol]
(Homo sapiens)
NF1 R2517* [cytosol]
(Homo sapiens)
NF1 R2637* [cytosol]
(Homo sapiens)
NF1 R2637Q [cytosol]
(Homo sapiens)
NF1 R304* [cytosol]
(Homo sapiens)
NF1 R304Q [cytosol]
(Homo sapiens)
NF1 R416* [cytosol]
(Homo sapiens)
NF1 R416Q [cytosol]
(Homo sapiens)
NF1 R440* [cytosol]
(Homo sapiens)
NF1 R440Q [cytosol]
(Homo sapiens)
NF1 Y489C [cytosol]
(Homo sapiens)
NF1 R2450* [cytosol]
(Homo sapiens)
NF1 E163D fs*2 [cytosol]
(Homo sapiens)
NF1 G849E fs*29 [cytosol]
(Homo sapiens)
Participates
as a component of
NF1 GTPase mutants:SPRED dimer:p21 RAS:GTP [plasma membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
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