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Results for the Protein: Q8NET8
62901456

TRPV3_HUMAN RecName: Full=Transient receptor potential cation channel subfamily V member 3; Short=TrpV3; AltName: Full=Vanilloid receptor-like 3; Short=VRL-3

Known Diseases associated with this Protein:
  OLMSTED SYNDROME (OLMS)
  PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC
  PLAQUES
6
9
3
7
5
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Default View:

ANK - cd00204
Ank - pfam00023
ANK - smart00248
Ion_trans - pfam00520


Swiss-Prot Protein: Q8NET8
Identical to: NP_659505
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANKcd002041.7e-14209361
Ankpfam000234.7e-05214246
Ankpfam000230.00033261294
Ion_transpfam005200.00014488677
ANKsmart002480.00042261291

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs115770751 Polymorphismp.ALA32GLYN/A
dbSNPrs75319568 Polymorphismp.ALA628THRN/A
dbSNPrs322937 Polymorphismp.ARG117GLYN/A
dbSNPrs78615718 Polymorphismp.ASP198ASNN/A
Swiss-ProtVAR_067920Diseasep.GLY573CYSOlmsted syndrome (OLMS)
Swiss-ProtVAR_067921Diseasep.GLY573SEROlmsted syndrome (OLMS)
Swiss-ProtVAR_052388Polymorphismp.ILE25VALN/A
dbSNPrs56169438 Polymorphismp.LEU473PHEN/A
dbSNPrs114131791 Polymorphismp.MET479LEUN/A
Swiss-ProtVAR_052390Polymorphismp.THR774ILEN/A
Swiss-ProtVAR_067922Diseasep.TRP692GLYOlmsted syndrome (OLMS)
dbSNPrs8066242 Polymorphismp.VAL132METN/A
OMIM607066.0002 Diseasep.GLY573CYSPALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC||PLAQUES
OMIM607066.0001 Diseasep.GLY573SERPALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC||PLAQUES
OMIM607066.0003 Diseasep.TRP692GLYPALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC||PLAQUES



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