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Results for the Protein: NP_002128
4504447

heterogeneous nuclear ribonucleoproteins A2/B1 isoform A2 [Homo sapiens]

Known Diseases associated with this Protein:
  DEMENTIA 2 (1 FAMILY)
  INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
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Default View:

RRM_SF - cd00590
- smart00362
RRM_1 - pfam00076
RRM - smart00360
HnRNPA1 - pfam11627


RefSeq Protein: NP_002128
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RRM_SFcd005908.1e-19101174
RRM_1pfam000761.6e-201180
RRM_1pfam000761.1e-20102171
smart003625.3e-221082
RRMsmart003601.3e-221382
smart003621.8e-16101173
RRMsmart003606.1e-19104173
HnRNPA1pfam116272.4e-16285322

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600124.0001 Diseasep.ASP278VALINCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL||DEMENTIA 2 (1 family)



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