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Results for the Protein: Q15833
313104015

STXB2_HUMAN RecName: Full=Syntaxin-binding protein 2; AltName: Full=Protein unc-18 homolog 2; Short=Unc18-2; AltName: Full=Protein unc-18 homolog B; Short=Unc-18B

Known Diseases associated with this Protein:
  FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 5 (FHL5)
  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5
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Default View:

SEC1 - COG5158
Sec1 - pfam00995


Swiss-Prot Protein: Q15833
Identical to: NP_008880
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sec1pfam009957e-19928580

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063817Diseasep.ARG405GLNFamilial hemophagocytic lymphohistiocytosis 5 (FHL5)
Swiss-ProtVAR_063816Diseasep.ARG292HISFamilial hemophagocytic lymphohistiocytosis 5 (FHL5)
Swiss-ProtVAR_063818Diseasep.ARG405TRPFamilial hemophagocytic lymphohistiocytosis 5 (FHL5)
dbSNPrs6791 Polymorphismp.ILE526VALN/A
Swiss-ProtVAR_063814Diseasep.LEU209PROFamilial hemophagocytic lymphohistiocytosis 5 (FHL5)
Swiss-ProtVAR_063819Diseasep.PRO477LEUFamilial hemophagocytic lymphohistiocytosis 5 (FHL5)
OMIM601717.0007 Diseasep.GLY530SERHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5
OMIM601717.0004 Diseasep.LEU198PROHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5
OMIM601717.0001 Diseasep.PRO466LEUHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5



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