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Results for the Protein: Q9BX84
56404951

TRPM6_HUMAN RecName: Full=Transient receptor potential cation channel subfamily M member 6; AltName: Full=Channel kinase 2; AltName: Full=Melastatin-related TRP cation channel 6

Known Diseases associated with this Protein:
  HYPOMAGNESEMIA 1 (HOMG1)
  HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
5
13
4
3
11
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Default View:

Ion_trans - pfam00520
Alpha_kinase - smart00811
Alpha_kinase - pfam02816


Swiss-Prot Protein: Q9BX84
Identical to: NP_060132
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005200.000318731069
Alpha_kinasepfam028163.3e-6717771972
Alpha_kinasesmart008116.1e-9417541972

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019964Polymorphismp.ASN1071ASPN/A
Swiss-ProtVAR_042391Polymorphismp.GLN1274ARGN/A
Swiss-ProtVAR_042392Polymorphismp.GLN1663ARGN/A
Swiss-ProtVAR_042387Polymorphismp.GLY75VALN/A
Swiss-ProtVAR_042390Polymorphismp.HIS1243ARGN/A
dbSNPrs115354606 Polymorphismp.HIS547TYRN/A
Swiss-ProtVAR_042393Polymorphismp.LEU1673SERN/A
dbSNPrs2274924 Polymorphismp.LYS1584GLUN/A
Swiss-ProtVAR_042388Polymorphismp.MET338ILEN/A
Swiss-ProtVAR_052380Polymorphismp.PHE948LEUN/A
Swiss-ProtVAR_019963Diseasep.SER141LEUHypomagnesemia 1 (HOMG1)
Swiss-ProtVAR_042394Polymorphismp.THR1724ILEN/A
Swiss-ProtVAR_042389Polymorphismp.TRP1007CYSN/A
dbSNPrs3750425 Polymorphismp.VAL1393ILEN/A
OMIM607009.0007 Diseasep.ARG484TERHYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
OMIM607009.0008 Diseasep.ARG56TERHYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
OMIM607009.0011 Diseasep.SER141LEUHYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
OMIM607009.0001 Diseasep.SER590TERHYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA



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