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Results for the Protein: P98194
68068024

AT2C1_HUMAN RecName: Full=Calcium-transporting ATPase type 2C member 1; Short=ATPase 2C1; AltName: Full=ATP-dependent Ca(2+) pump PMR1

Known Diseases associated with this Protein:
  HAILEY-HAILEY DISEASE
  HAILEY-HAILEY DISEASE (HHD)
21
2
4
2
17
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

MgtA - COG0474
ZntA - COG2217
Cation_ATPase_N - pfam00690
Cation_ATPase_N - smart00831
KdpB - COG2216
E1-E2_ATPase - pfam00122
Hydrolase - pfam00702
COG4087 - COG4087
Cation_ATPase_C - pfam00689




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MgtACOG04749902
ZntACOG22176.5e-1122739
Cation_ATPase_Npfam006904e-202694
KdpBCOG22168.7e-1054752
E1-E2_ATPasepfam001221.5e-83105340
Hydrolasepfam007024.4e-07344656
COG4087COG40871.4e-05553692
Cation_ATPase_Cpfam006897.9e-60726898
Cation_ATPase_Nsmart008315.7e-163699

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008803Diseasep.ALA304THRHailey-Hailey disease (HHD)
dbSNPrs41434650 Polymorphismp.ALA450THRN/A
Swiss-ProtVAR_022676Diseasep.ASP742TYRHailey-Hailey disease (HHD)
Swiss-ProtVAR_022674Diseasep.CYS411ARGHailey-Hailey disease (HHD)
Swiss-ProtVAR_019523Diseasep.CYS490PHEHailey-Hailey disease (HHD)
Swiss-ProtVAR_010131Diseasep.CYS344TYRHailey-Hailey disease (HHD)
Swiss-ProtVAR_008806Diseasep.GLY645ARGHailey-Hailey disease (HHD)
Swiss-ProtVAR_022677Diseasep.GLY789ARGHailey-Hailey disease (HHD)
Swiss-ProtVAR_022672Diseasep.GLY309CYSHailey-Hailey disease (HHD)
Swiss-ProtVAR_022675Diseasep.ILE580VALHailey-Hailey disease (HHD)
Swiss-ProtVAR_008804Diseasep.LEU318PROHailey-Hailey disease (HHD)
Swiss-ProtVAR_022673Diseasep.LEU341PROHailey-Hailey disease (HHD)
Swiss-ProtVAR_019524Diseasep.LEU584PROHailey-Hailey disease (HHD)
Swiss-ProtVAR_008805Diseasep.MET641ARGHailey-Hailey disease (HHD)
Swiss-ProtVAR_008808Diseasep.PRO744ARGHailey-Hailey disease (HHD)
Swiss-ProtVAR_010130Diseasep.PRO201LEUHailey-Hailey disease (HHD)
dbSNPrs61731514 Polymorphismp.SER298ARGN/A
Swiss-ProtVAR_010132Diseasep.THR570ILEHailey-Hailey disease (HHD)
Swiss-ProtVAR_008807Diseasep.THR709METHailey-Hailey disease (HHD)
OMIM604384.0002 Diseasep.ALA270THRHAILEY-HAILEY DISEASE
OMIM604384.0003 Diseasep.ARG434TERHAILEY-HAILEY DISEASE
OMIM604384.0006 Diseasep.CYS456PHEHAILEY-HAILEY DISEASE
OMIM604384.0008 Diseasep.LEU550PROHAILEY-HAILEY DISEASE



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