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Results for the Protein: Q9Y2U8
13629600

MAN1_HUMAN RecName: Full=Inner nuclear membrane protein Man1; AltName: Full=LEM domain-containing protein 3

Known Diseases associated with this Protein:
  BUSCHKE-OLLENDORFF SYNDROME
  DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED
  OSTEOPOIKILOSIS WITH MELORHEOSTOSIS
2
1
2
0
1
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Default View:

LEM - smart00540
LEM - pfam03020
MSC - pfam09402
RRM_SF - cd00590


Swiss-Prot Protein: Q9Y2U8
Identical to: NP_055134
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LEMpfam030208e-23749
LEMsmart005406.3e-22750
MSCpfam094021.2e-78476751

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_034605Polymorphismp.ASP260TYRN/A
OMIM607844.0008 Diseasep.ARG655TEROSTEOPOIKILOSIS WITH MELORHEOSTOSIS||DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED
OMIM607844.0007 Diseasep.TRP855TERBUSCHKE-OLLENDORFF SYNDROME



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