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Results for the Protein: NP_077741
148539848

desmocollin-3 isoform Dsc3b preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
1
4
1
4
0
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Default View:

Cadherin_pro - pfam08758
CA - smart00112
CA_like - cd00031


RefSeq Protein: NP_077741
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000313.3e-56247464
CA_likecd000319.5e-27475670
Cadherin_propfam087581.9e-2831113
CAsmart001121.6e-12159241
CAsmart001124.2e-22268353
CAsmart001126.7e-10379470
CAsmart001122.9e-16496575

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2852003 Polymorphismp.ALA28ASPN/A
dbSNPrs276938 Polymorphismp.ARG102LYSN/A
dbSNPrs35296997 Polymorphismp.LYS180GLNN/A
dbSNPrs276937 Polymorphismp.SER78THRN/A
OMIM600271.0001 Diseasep.LEU710TERHYPOTRICHOSIS AND RECURRENT SKIN VESICLES



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