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Results for the Protein: P13473
1708854

LAMP2_HUMAN RecName: Full=Lysosome-associated membrane glycoprotein 2; Short=LAMP-2; Short=Lysosome-associated membrane protein 2; AltName: Full=CD107 antigen-like family member B; AltName: CD_antigen=CD107b; Flags: Precursor

Known Diseases associated with this Protein:
  DANON DISEASE
  DANON DISEASE (DAND)
5
1
4
0
2
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Default View:

Lamp - pfam01299


Swiss-Prot Protein: P13473
Identical to: NP_002285
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Lamppfam012991.4e-173109410

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011992Polymorphismp.PRO256HISN/A
Swiss-ProtVAR_026230Diseasep.TRP321ARGDanon disease (DAND)
OMIM309060.0009 Diseasep.GLN174TERDANON DISEASE
OMIM309060.0002 Diseasep.LEU113TERDANON DISEASE
OMIM309060.0011 Diseasep.TRP321ARGDANON DISEASE
OMIM309060.0010 Diseasep.VAL310ILEDANON DISEASE



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