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Results for the Protein: NP_001245151
384551692

BTB/POZ domain-containing protein KCTD1 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  SCALP-EAR-NIPPLE SYNDROME
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Default View:

BTB - smart00225
K_tetra - pfam02214




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BTBsmart002252.9e-0739133

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM613420.0001 Diseasep.ALA1GLUSCALP-EAR-NIPPLE SYNDROME
OMIM613420.0008 Diseasep.GLY1ASPSCALP-EAR-NIPPLE SYNDROME
OMIM613420.0005 Diseasep.HIS1GLNSCALP-EAR-NIPPLE SYNDROME
OMIM613420.0002 Diseasep.PRO1ARGSCALP-EAR-NIPPLE SYNDROME
OMIM613420.0004 613420.0006 613420.0007 Diseasep.PRO1HISSCALP-EAR-NIPPLE SYNDROME
OMIM613420.0003 Diseasep.PRO1LEUSCALP-EAR-NIPPLE SYNDROME



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