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Results for the Protein: NP_113636
110611186

protein C19orf12 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, INCLUDED
  SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (1 FAMILY)
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RefSeq Protein: NP_113636
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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 ↕
OMIM614297.0006 Diseasep.ALA52PROSPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (1 family)||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, INCLUDED
OMIM614297.0003 Diseasep.GLY58ARGNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
OMIM614297.0005 Diseasep.LEU110GLNNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
OMIM614297.0004 Diseasep.LYS131GLUNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4



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