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Results for the Protein: NP_001036002
110227626

sodium/hydrogen exchanger 6 isoform a precursor [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
2
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2
0
0
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Default View:

Na_H_Exchanger - pfam00999
NhaP - COG0025




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Na_H_Exchangerpfam009998.5e-9977535

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300231.0002 Diseasep.ARG468TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
OMIM300231.0006 Diseasep.GLU547TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE



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