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Results for the Protein: Q8IZF0
74750791

NALCN_HUMAN RecName: Full=Sodium leak channel non-selective protein; AltName: Full=CanIon; AltName: Full=Voltage gated channel-like protein 1

Known Diseases associated with this Protein:
  FACIES
  HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC
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Default View:

Ion_trans - pfam00520


Swiss-Prot Protein: Q8IZF0
Identical to: NP_443099
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005204.6e-4373321
Ion_transpfam005208.7e-34420598
Ion_transpfam005202.7e-469201155
Ion_transpfam005204.1e-3612431446

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM611549.0001 Diseasep.GLN642TERHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC||FACIES
OMIM611549.0003 Diseasep.TRP1287LEUHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC||FACIES



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