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Results for the Protein: Q2M1K9
121941357

ZN423_HUMAN RecName: Full=Zinc finger protein 423; AltName: Full=Olf1/EBF-associated zinc finger protein; Short=hOAZ; AltName: Full=Smad- and Olf-interacting zinc finger protein

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 19
  JOUBERT SYNDROME 19 (JBTS19)
  NEPHRONOPHTHISIS 14
  NEPHRONOPHTHISIS 14 (NPHP14)
4
1
2
0
3
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Default View:

ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096


Swiss-Prot Protein: Q2M1K9
Identical to: NP_055884
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000962.9e-06138160
zf-C2H2pfam000964.1e-05194216
zf-C2H2pfam000961.5e-05222244
zf-C2H2pfam000960.00042263286
zf-C2H2pfam000960.00056480503
zf-C2H2pfam000960.00011692715
zf-C2H2pfam000960.00026959981
ZnF_C2H2smart003553.8e-05138160
ZnF_C2H2smart003550.00076194216
ZnF_C2H2smart003551.2e-05222244
ZnF_C2H2smart003550.00096263286
ZnF_C2H2smart003552e-05480503
ZnF_C2H2smart003550.00047517540
ZnF_C2H2smart003550.00016632654
ZnF_C2H2smart003551.8e-05692715
ZnF_C2H2smart003550.00045720743
ZnF_C2H2smart003550.00015750773
ZnF_C2H2smart003550.00067781803
ZnF_C2H2smart003551.7e-05930952
ZnF_C2H2smart003554.7e-05959981
ZnF_C2H2smart003556.9e-0511201143
ZnF_C2H2smart003550.0005511681190
ZnF_C2H2smart003550.0003612291252

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036844Polymorphismp.ASN629SERN/A
Swiss-ProtVAR_068502Diseasep.HIS1277TYRJoubert syndrome 19 (JBTS19)
Swiss-ProtVAR_068501Diseasep.PRO913LEUNephronophthisis 14 (NPHP14)
OMIM604557.0003 Diseasep.HIS1277TYRJOUBERT SYNDROME 19
OMIM604557.0001 Diseasep.PRO913LEUNEPHRONOPHTHISIS 14



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