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Results for the Protein: NP_000263
46397398

nephrocystin-1 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  NEPHRONOPHTHISIS 1
2
0
2
0
0
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Default View:

SH3 - smart00326
SH3 - cd00174
SH3_2 - pfam07653
SH3_1 - pfam00018


RefSeq Protein: NP_000263
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3_1pfam000188.1e-14158204
SH3smart003266.8e-20153210
SH3_2pfam076536.3e-11156209

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607100.0004 Diseasep.GLY343ARGNEPHRONOPHTHISIS 1
OMIM607100.0003 Diseasep.LEU27TERNEPHRONOPHTHISIS 1



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