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Results for the Protein: NP_001136098
217330610

thyrotropin receptor isoform 3 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERTHYROIDISM, FAMILIAL GESTATIONAL
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
5
2
5
2
0
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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 ↕
dbSNPrs3783941 Polymorphismp.ARG269SERN/A
dbSNPrs2234919 Polymorphismp.PRO52THRN/A
OMIM603372.0009 Diseasep.ARG109GLNHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0013 Diseasep.CYS41SERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0005 Diseasep.ILE167ASNHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
OMIM603372.0024 Diseasep.LYS183ARGHYPERTHYROIDISM, FAMILIAL GESTATIONAL
OMIM603372.0006 Diseasep.PRO162ALAHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1



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