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Results for the Protein: Q6ZW61
296434408

BBS12_HUMAN RecName: Full=Bardet-Biedl syndrome 12 protein

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 12
  BARDET-BIEDL SYNDROME 12 (BBS12)
14
16
2
7
21
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Swiss-Prot Protein: Q6ZW61
Identical to: NP_001171478, NP_689831
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_034926Diseasep.ALA289PROBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_034933Polymorphismp.ALA615VALN/A
Swiss-ProtVAR_066277Diseasep.ARG674CYSBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_066270Diseasep.ARG355GLNBardet-Biedl syndrome 12 (BBS12)
dbSNPrs309370 Polymorphismp.ARG386GLNN/A
Swiss-ProtVAR_066275Diseasep.ARG525HISBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_034931Polymorphismp.ARG484LYSN/A
dbSNPrs10027479 Polymorphismp.ASN461HISN/A
dbSNPrs17006082 Polymorphismp.ASN238LYSN/A
dbSNPrs13135778 Polymorphismp.ASP467ASNN/A
Swiss-ProtVAR_066269Diseasep.GLN293GLUBardet-Biedl syndrome 12 (BBS12)
dbSNPrs309369 Polymorphismp.GLU126ASPN/A
Swiss-ProtVAR_066276Diseasep.GLY539ASPBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_066267Polymorphismp.GLY119SERN/A
Swiss-ProtVAR_034932Diseasep.GLY540VALBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_062964Diseasep.ILE346THRBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_034919Polymorphismp.ILE39THRN/A
Swiss-ProtVAR_034923Polymorphismp.ILE170VALN/A
Swiss-ProtVAR_066266Diseasep.LEU88ARGBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_034924Polymorphismp.LYS195ARGN/A
Swiss-ProtVAR_066272Polymorphismp.LYS408ARGN/A
Swiss-ProtVAR_034922Diseasep.PRO159LEUBardet-Biedl syndrome 12 (BBS12)
dbSNPrs28507107 Polymorphismp.SER616ASNN/A
dbSNPrs7665271 Polymorphismp.SER429THRN/A
Swiss-ProtVAR_062965Diseasep.THR501METBardet-Biedl syndrome 12 (BBS12)
Swiss-ProtVAR_066274Polymorphismp.TYR524CYSN/A
Swiss-ProtVAR_066268Polymorphismp.TYR263HISN/A
Swiss-ProtVAR_066271Diseasep.VAL400METBardet-Biedl syndrome 12 (BBS12)
OMIM610683.0004 Diseasep.ALA289PROBARDET-BIEDL SYNDROME 12
OMIM610683.0001 Diseasep.ARG355TERBARDET-BIEDL SYNDROME 12



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