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Results for the Protein: NP_861967
32967262
NF2

merlin isoform 6 [Homo sapiens]

Known Diseases associated with this Protein:
  MENINGIOMA, SOMATIC
  NEUROFIBROMATOSIS, TYPE II
13
0
13
0
0
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Default View:

B41 - smart00295
FERM_N - pfam09379
FERM_M - pfam00373
FERM_C-lobe - cd00836
FERM_C - pfam09380
ERM - pfam00769


RefSeq Protein: NP_861967
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FERM_C-lobecd008361e-38175267
FERM_Mpfam003739e-2768181
ERMpfam007697.3e-86306538
B41smart002954.6e-3319181
FERM_Npfam093793.5e-122692
FERM_Cpfam093802.9e-38185271

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607379.0009 Diseasep.ARG221TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0011 Diseasep.ARG300TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0014 Diseasep.ARG425TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0004 Diseasep.ARG57TERMENINGIOMA, SOMATIC
OMIM607379.0006 Diseasep.GLN497PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0010 Diseasep.GLN279TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0012 Diseasep.GLN366TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0008 Diseasep.GLU141TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0013 Diseasep.GLU422TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0015 Diseasep.GLU486TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0001 Diseasep.LEU319PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0005 Diseasep.LEU494PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0016 Diseasep.PHE62SERNEUROFIBROMATOSIS, TYPE II



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