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Results for the Protein: Q14739
20141468
LBR

LBR_HUMAN RecName: Full=Lamin-B receptor; AltName: Full=Integral nuclear envelope inner membrane protein; AltName: Full=LMN2R

Known Diseases associated with this Protein:
  PELGER-HUET ANOMALY
  PELGER-HUET ANOMALY (PHA)
  REYNOLDS SYNDROME
  REYNOLDS SYNDROME (REYNS)
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Default View:

LBR_tudor - pfam09465
TUDOR - smart00333


Swiss-Prot Protein: Q14739
Identical to: NP_919424, NP_002287
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TUDORsmart003338.2e-10461

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052155Polymorphismp.ARG169CYSN/A
Swiss-ProtVAR_063811Diseasep.ARG372CYSReynolds syndrome (REYNS)
Swiss-ProtVAR_017842Diseasep.PRO569ARGPelger-Huet anomaly (PHA)
Swiss-ProtVAR_017841Diseasep.PRO119LEUPelger-Huet anomaly (PHA)
Swiss-ProtVAR_024318Polymorphismp.SER154ASNN/A
dbSNPrs61731741 Polymorphismp.SER361PHEN/A
Swiss-ProtVAR_020209Polymorphismp.THR311ALAN/A
OMIM600024.0007 Diseasep.ARG372CYSREYNOLDS SYNDROME
OMIM600024.0006 Diseasep.PRO569ARGPELGER-HUET ANOMALY
OMIM600024.0004 Diseasep.PRO119LEUPELGER-HUET ANOMALY



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