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Results for the Protein: Q01814
14286115
491

AT2B2_HUMAN RecName: Full=Plasma membrane calcium-transporting ATPase 2; Short=PMCA2; AltName: Full=Plasma membrane calcium ATPase isoform 2; AltName: Full=Plasma membrane calcium pump isoform 2

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF
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Default View:

Cation_ATPase_N - smart00831
ATP_Ca_trans_C - pfam12424


Swiss-Prot Protein: Q01814
Identical to: NP_001001331
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Cation_ATPase_Nsmart008311.7e-0758123
ATP_Ca_trans_Cpfam124245e-3611261189

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM108733.0001 Diseasep.VAL586METDEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF



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