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Results for the Protein: Q96D31
97180269

CRCM1_HUMAN RecName: Full=Calcium release-activated calcium channel protein 1; AltName: Full=Protein orai-1; AltName: Full=Transmembrane protein 142A

Known Diseases associated with this Protein:
  IMMUNODEFICIENCY 9
  IMMUNODEFICIENCY 9 (IMD9)
2
2
1
1
2
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Default View:

Orai-1 - pfam07856


Swiss-Prot Protein: Q96D31
Identical to: NP_116179
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Orai-1pfam078561e-16564288

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026226Diseasep.ARG91TRPImmunodeficiency 9 (IMD9)
Swiss-ProtVAR_038608Polymorphismp.SER218GLYN/A
dbSNPrs3741596 Polymorphismp.SER220GLYN/A
OMIM610277.0001 Diseasep.ARG91TRPIMMUNODEFICIENCY 9



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