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Results for the Protein: Q6KC79
50400865

NIPBL_HUMAN RecName: Full=Nipped-B-like protein; AltName: Full=Delangin; AltName: Full=SCC2 homolog

Known Diseases associated with this Protein:
  CORNELIA DE LANGE SYNDROME 1
  CORNELIA DE LANGE SYNDROME 1 (CDLS1)
22
6
5
2
21
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Swiss-Prot Protein: Q6KC79
Identical to: NP_597677
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021598Diseasep.ALA1246GLYCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021607Diseasep.ALA2390THRCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021603Diseasep.ARG2298CYSCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021604Diseasep.ARG2298HISCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021600Diseasep.ARG1789LEUCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021602Diseasep.ARG1856THRCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_038412Polymorphismp.ASN384SERN/A
dbSNPrs3822471 Polymorphismp.ASN674SERN/A
Swiss-ProtVAR_021601Diseasep.ASP1803VALCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_019519Diseasep.CYS1311ARGCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_036164Polymorphismp.GLU1647LYSN/A
Swiss-ProtVAR_064545Diseasep.GLY2081ALACornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021606Diseasep.GLY2381ALACornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021605Diseasep.GLY2312ARGCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021597Polymorphismp.ILE1206VALN/A
Swiss-ProtVAR_019520Diseasep.LEU1348ARGCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021599Diseasep.LEU1312PROCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_064547Diseasep.LEU2150PROCornelia de Lange syndrome 1 (CDLS1)
dbSNPrs16903425 Polymorphismp.SER261ALAN/A
Swiss-ProtVAR_019518Polymorphismp.SER135ASNN/A
Swiss-ProtVAR_064546Diseasep.SER2090ILECornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_019521Diseasep.TYR2430CYSCornelia de Lange syndrome 1 (CDLS1)
Swiss-ProtVAR_021608Diseasep.TYR2440HISCornelia de Lange syndrome 1 (CDLS1)
OMIM608667.0009 Diseasep.ALA1246GLYCORNELIA DE LANGE SYNDROME 1
OMIM608667.0012 Diseasep.ARG1536TERCORNELIA DE LANGE SYNDROME 1
OMIM608667.0008 Diseasep.ARG1723TERCORNELIA DE LANGE SYNDROME 1
OMIM608667.0001 Diseasep.MET1LYSCORNELIA DE LANGE SYNDROME 1
OMIM608667.0002 Diseasep.TYR2430CYSCORNELIA DE LANGE SYNDROME 1



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