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Results for the Protein: Q6NUS6
91208025

TECT3_HUMAN RecName: Full=Tectonic-3; Flags: Precursor

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 18
  JOUBERT SYNDROME 18 (JBTS18)
  OROFACIODIGITAL SYNDROME IV
4
1
3
1
1
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Default View:

DUF1619 - pfam07773


Swiss-Prot Protein: Q6NUS6
Identical to: NP_056446
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1619pfam077738.3e-10890390

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068823Diseasep.GLY314ARGJoubert syndrome 18 (JBTS18)
dbSNPrs11553577 Polymorphismp.THR65PRON/A
OMIM613847.0003 Diseasep.GLN443TEROROFACIODIGITAL SYNDROME IV
OMIM613847.0001 Diseasep.GLN480TEROROFACIODIGITAL SYNDROME IV
OMIM613847.0006 Diseasep.GLY314ARGJOUBERT SYNDROME 18



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