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Results for the Protein: Q719H9
74738338

KCTD1_HUMAN RecName: Full=BTB/POZ domain-containing protein KCTD1; AltName: Full=Potassium channel tetramerization domain-containing protein 1

Known Diseases associated with this Protein:
  SCALP-EAR-NIPPLE SYNDROME (SENS)
8
1
0
0
9
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Default View:

BTB - smart00225
K_tetra - pfam02214


Swiss-Prot Protein: Q719H9
Identical to: NP_001129677, NP_945342
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
K_tetrapfam022141.5e-1432125
BTBsmart002252.9e-0731125

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069971Diseasep.ALA30GLUScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_069977Diseasep.GLY62ASPScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_069976Diseasep.HIS33GLNScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_069975Diseasep.HIS33PROScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_069978Diseasep.HIS74PROScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_049722Polymorphismp.LEU107TRPN/A
Swiss-ProtVAR_069973Diseasep.PRO31ARGScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_069972Diseasep.PRO31LEUScalp-ear-nipple syndrome (SENS)
Swiss-ProtVAR_069974Diseasep.PRO31SERScalp-ear-nipple syndrome (SENS)



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