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Results for the Protein: Q9H5I5
317373264

PIEZ2_HUMAN RecName: Full=Piezo-type mechanosensitive ion channel component 2; AltName: Full=Protein FAM38B

Known Diseases associated with this Protein:
  ARTHROGRYPOSIS, DISTAL, TYPE 5
1
6
1
6
0
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Default View:

DUF3595 - pfam12166


Swiss-Prot Protein: Q9H5I5
Identical to: NP_071351
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF3595pfam121662.5e-18923392750

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2865121 Polymorphismp.ARG1611GLNN/A
dbSNPrs79992793 Polymorphismp.ARG2064THRN/A
dbSNPrs35033671 Polymorphismp.CYS1148PHEN/A
dbSNPrs4796901 Polymorphismp.GLU1898GLNN/A
dbSNPrs7234309 Polymorphismp.VAL1354ILEN/A
dbSNPrs3748428 Polymorphismp.VAL2463ILEN/A
OMIM613629.0001 Diseasep.ILE802PHEARTHROGRYPOSIS, DISTAL, TYPE 5



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