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Results for the Protein: NP_001035962
110224458

solute carrier family 12 member 6 isoform e [Homo sapiens]

Known Diseases associated with this Protein:
  AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
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Default View:

PotE - COG0531
AA_permease - pfam00324
KCl_Cotrans_1 - pfam03522




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AA_permeasepfam003249.9e-18175746
KCl_Cotrans_1pfam035226e-2010031032

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM604878.0008 Diseasep.ARG192CYSAGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
OMIM604878.0010 Diseasep.ARG1119TERAGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
OMIM604878.0004 Diseasep.ARG660TERAGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
OMIM604878.0003 Diseasep.ARG996TERAGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY



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