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Results for the Protein: Q9C040
21363034

TRIM2_HUMAN RecName: Full=Tripartite motif-containing protein 2; AltName: Full=E3 ubiquitin-protein ligase TRIM2; AltName: Full=RING finger protein 86

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (1 FAMILY)
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Default View:

RING - smart00184
BBOX - smart00336
BBC - smart00502
IG_FLMN - smart00557


Swiss-Prot Protein: Q9C040
Identical to: NP_001123539
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BBOXsmart003361.2e-15113154
BBCsmart005022.2e-39161287
IG_FLMNsmart005574.3e-31325424

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM614141.0001 Diseasep.GLU200VALCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (1 family)



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