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Results for the Protein: NP_861966
32967260
NF2

merlin isoform 5 [Homo sapiens]

Known Diseases associated with this Protein:
  NEUROFIBROMATOSIS, TYPE II
11
0
11
0
0
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Default View:

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


RefSeq Protein: NP_861966
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FERM_C-lobecd008361e-38174266
FERM_Mpfam003732.8e-3767180
ERMpfam007697.3e-86305537
B41smart002957e-342180
FERM_Cpfam093802.9e-38184270

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607379.0009 Diseasep.ARG220TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0011 Diseasep.ARG299TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0014 Diseasep.ARG424TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0006 Diseasep.GLN496PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0010 Diseasep.GLN278TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0012 Diseasep.GLN365TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0008 Diseasep.GLU140TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0013 Diseasep.GLU421TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0015 Diseasep.GLU485TERNEUROFIBROMATOSIS, TYPE II
OMIM607379.0001 Diseasep.LEU318PRONEUROFIBROMATOSIS, TYPE II
OMIM607379.0005 Diseasep.LEU493PRONEUROFIBROMATOSIS, TYPE II



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