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Results for the Protein: Q9BQL6
26392456

FERM1_HUMAN RecName: Full=Fermitin family homolog 1; AltName: Full=Kindlerin; AltName: Full=Kindlin syndrome protein; AltName: Full=Kindlin-1; AltName: Full=Unc-112-related protein 1

Known Diseases associated with this Protein:
  KINDLER SYNDROME
  KINDLER SYNDROME (KINDS)
5
5
3
3
4
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Default View:

B41 - smart00295
PH - smart00233


Swiss-Prot Protein: Q9BQL6
Identical to: NP_060141
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
B41smart002951.3e-9892570
PHsmart002331.1e-08370473

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014399Polymorphismp.ALA534THRN/A
dbSNPrs62200482 Polymorphismp.ARG255CYSN/A
dbSNPrs2232074 Polymorphismp.ARG526LYSN/A
dbSNPrs16991866 Polymorphismp.ILE160THRN/A
Swiss-ProtVAR_066943Diseasep.SER400PROKindler syndrome (KINDS)
Swiss-ProtVAR_066944Diseasep.TRP559ARGKindler syndrome (KINDS)
Swiss-ProtVAR_061035Polymorphismp.VAL241ALAN/A
OMIM607900.0005 Diseasep.ARG271TERKINDLER SYNDROME
OMIM607900.0006 Diseasep.ARG288TERKINDLER SYNDROME
OMIM607900.0002 Diseasep.GLN263TERKINDLER SYNDROME



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