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Results for the Protein: NP_001245134
384551638

transient receptor potential cation channel subfamily V member 3 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC
  PLAQUES
3
0
3
0
0
Tips:
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Default View:

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




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 ↕
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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