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Results for the Protein: NP_001158203
257900514

receptor expression-enhancing protein 1 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
2
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2
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Default View:

TB2_DP1_HVA22 - pfam03134




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM609139.0004 Diseasep.ALA1GLUSPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
OMIM609139.0005 Diseasep.ARG79TERSPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT



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