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Results for the Protein: NP_001264058
459683820

NACHT, LRR and PYD domains-containing protein 12 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
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Tips:
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Default View:

PYRIN - pfam02758
Pyrin_ASC-like - cd08321
Pyrin_NALPs - cd08320
Pyrin - cd08305
NACHT - pfam05729
LRR_RI - cd00116
LRR_RI - smart00368




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pyrin_ASC-likecd083213.7e-181091
Pyrin_NALPscd083201.8e-431195
Pyrincd083056e-051390
LRR_RIcd001163.8e-38661982
PYRINpfam027587.3e-35991
NACHTpfam057298.8e-88211381
LRR_RIsmart003685e-05712739
LRR_RIsmart003681.3e-06769796
LRR_RIsmart003686.5e-07826853
LRR_RIsmart003682.8e-07883910
LRR_RIsmart003680.00017940967

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM609648.0001 Diseasep.ARG284TERFAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2



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