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Results for the Protein: NP_073155
221316616

extracellular matrix protein 1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  LIPOID PROTEINOSIS OF URBACH AND WIETHE
3
2
3
2
0
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Default View:

ECM1 - pfam05782


RefSeq Protein: NP_073155
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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 ↕
dbSNPrs13294 Polymorphismp.GLY290SERN/A
dbSNPrs3737240 Polymorphismp.THR130METN/A
OMIM602201.0005 Diseasep.ARG53TERLIPOID PROTEINOSIS OF URBACH AND WIETHE
OMIM602201.0006 Diseasep.PHE140ILELIPOID PROTEINOSIS OF URBACH AND WIETHE
OMIM602201.0007 Diseasep.TRP133TERLIPOID PROTEINOSIS OF URBACH AND WIETHE



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