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Results for the Protein: Q13621
212276464

S12A1_HUMAN RecName: Full=Solute carrier family 12 member 1; AltName: Full=Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; AltName: Full=Kidney-specific Na-K-Cl symporter

Known Diseases associated with this Protein:
  BARTTER SYNDROME 1 (BS1)
  BARTTER SYNDROME, ANTENATAL, TYPE 1
5
2
3
1
3
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Default View:

AA_permease_N - pfam08403


Swiss-Prot Protein: Q13621
Identical to: NP_000329
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AA_permease_Npfam084031.3e-3789161

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs78648980 Polymorphismp.ALA737VALN/A
Swiss-ProtVAR_010224Diseasep.ASP648ASNBartter syndrome 1 (BS1)
Swiss-ProtVAR_047257Polymorphismp.VAL958ALAN/A
Swiss-ProtVAR_010223Diseasep.VAL272PHEBartter syndrome 1 (BS1)
OMIM600839.0001 Diseasep.ASP648ASNBARTTER SYNDROME, ANTENATAL, TYPE 1
OMIM600839.0003 Diseasep.TRP625TERBARTTER SYNDROME, ANTENATAL, TYPE 1
OMIM600839.0002 Diseasep.VAL272PHEBARTTER SYNDROME, ANTENATAL, TYPE 1



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