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Results for the Protein: P35240
462594
NF2

MERL_HUMAN RecName: Full=Merlin; AltName: Full=Moesin-ezrin-radixin-like protein; AltName: Full=Neurofibromin-2; AltName: Full=Schwannomerlin; AltName: Full=Schwannomin

Known Diseases associated with this Protein:
  MENINGIOMA, SOMATIC
  NEUROFIBROMATOSIS 2 (NF2)
  NEUROFIBROMATOSIS, TYPE II
29
11
13
0
27
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Default View:

B41 - smart00295
FERM_N - pfam09379
FERM_C - pfam09380


Swiss-Prot Protein: P35240
Identical to: NP_000259
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
B41smart002951.2e-7619222
FERM_Npfam093793.1e-2426102
FERM_Cpfam093802.9e-38226312

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000824Polymorphismp.ARG418CYSN/A
Swiss-ProtVAR_029041Polymorphismp.ARG351HISN/A
Swiss-ProtVAR_000818Diseasep.ASN220TYRNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_065227Diseasep.CYS133ARGNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_048358Polymorphismp.GLN344HISN/A
Swiss-ProtVAR_000826Diseasep.GLN538PRONeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000813Diseasep.GLU106GLYNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_035848Polymorphismp.GLU463LYSN/A
Swiss-ProtVAR_043013Diseasep.GLY197CYSNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000819Polymorphismp.ILE273PHEN/A
Swiss-ProtVAR_009123Diseasep.LEU234ARGNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000809Polymorphismp.LEU46ARGN/A
Swiss-ProtVAR_043016Diseasep.LEU539HISNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000814Polymorphismp.LEU117ILEN/A
Swiss-ProtVAR_000820Polymorphismp.LEU339PHEN/A
Swiss-ProtVAR_043012Diseasep.LEU141PRONeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000822Diseasep.LEU360PRONeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000825Diseasep.LEU535PRONeurofibromatosis 2 (NF2)
Swiss-ProtVAR_043014Diseasep.LYS413GLUNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000811Polymorphismp.LYS79GLUN/A
Swiss-ProtVAR_000823Polymorphismp.LYS364ILEN/A
Swiss-ProtVAR_043017Diseasep.LYS579METNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_043015Diseasep.LYS533THRNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_043011Diseasep.MET77VALNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000810Diseasep.PHE62SERNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000821Diseasep.THR352METNeurofibromatosis 2 (NF2)
Swiss-ProtVAR_000817Polymorphismp.VAL219METN/A
OMIM607379.0009 Diseasep.ARG262TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0011 Diseasep.ARG341TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0014 Diseasep.ARG466TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0004 Diseasep.ARG57TERMENINGIOMA, SOMATIC
OMIM607379.0006 Diseasep.GLN538PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0010 Diseasep.GLN320TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0012 Diseasep.GLN407TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0008 Diseasep.GLU182TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0013 Diseasep.GLU463TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0015 Diseasep.GLU527TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0001 Diseasep.LEU360PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0005 Diseasep.LEU535PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0016 Diseasep.PHE62SERNEUROFIBROMATOSIS, TYPE II



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