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Results for the Protein: Q3SXY8
115503786

AR13B_HUMAN RecName: Full=ADP-ribosylation factor-like protein 13B; AltName: Full=ADP-ribosylation factor-like protein 2-like 1; Short=ARL2-like protein 1

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 8
  JOUBERT SYNDROME 8 (JBTS8)
5
2
3
1
3
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Default View:

ARF - smart00177
SAR - smart00178


Swiss-Prot Protein: Q3SXY8
Identical to: NP_001167621, NP_878899
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SARsmart001784.2e-159190

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054372Diseasep.ARG200CYSJoubert syndrome 8 (JBTS8)
Swiss-ProtVAR_054371Diseasep.ARG79GLNJoubert syndrome 8 (JBTS8)
Swiss-ProtVAR_069190Polymorphismp.ARG390LEUN/A
dbSNPrs33944211 Polymorphismp.THR348SERN/A
OMIM608922.0003 Diseasep.ARG200CYSJOUBERT SYNDROME 8
OMIM608922.0001 Diseasep.ARG79GLNJOUBERT SYNDROME 8
OMIM608922.0002 Diseasep.TRP82TERJOUBERT SYNDROME 8



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