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Results for the Protein: NP_001186110
312836767

calcium-transporting ATPase type 2C member 1 isoform 2b [Homo sapiens]

Known Diseases associated with this Protein:
  HAILEY-HAILEY DISEASE
4
2
4
2
0
Tips:
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Default View:

ZntA - COG2217
MgtA - COG0474
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 ↕
ZntACOG22176.2e-1133773
Cation_ATPase_Npfam006904e-2060128
KdpBCOG22168.7e-1088786
E1-E2_ATPasepfam001221.5e-83139374
Hydrolasepfam007024.4e-07378690
COG4087COG40871.4e-05587726
Cation_ATPase_Cpfam006897.9e-60760932
Cation_ATPase_Nsmart008315.7e-1670133

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs41434650 Polymorphismp.ALA484THRN/A
dbSNPrs61731514 Polymorphismp.SER332ARGN/A
OMIM604384.0002 Diseasep.ALA304THRHAILEY-HAILEY DISEASE
OMIM604384.0003 Diseasep.ARG468TERHAILEY-HAILEY DISEASE
OMIM604384.0006 Diseasep.CYS490PHEHAILEY-HAILEY DISEASE
OMIM604384.0008 Diseasep.LEU584PROHAILEY-HAILEY DISEASE



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