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Results for the Protein: P81274
294862507

GPSM2_HUMAN RecName: Full=G-protein-signaling modulator 2; AltName: Full=Mosaic protein LGN

Known Diseases associated with this Protein:
  CHUDLEY-MCCULLOUGH SYNDROME
3
2
3
2
0
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Default View:

TPR - smart00028
TPR_2 - pfam07719
GoLoco - smart00390


Swiss-Prot Protein: P81274
Identical to: NP_037428
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TPRsmart000281.9e-06102135
TPRsmart000280.00072202235
TPR_2pfam077190.00047242275
TPRsmart000281.7e-05242275
TPRsmart000286.8e-06282315
TPRsmart000280.00046322355
GoLocosmart003902.7e-11489511
GoLocosmart003903.6e-09544566
GoLocosmart003901.4e-11594616
GoLocosmart003902.7e-10628650

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs41279678 Polymorphismp.ARG127GLNN/A
dbSNPrs35089879 Polymorphismp.THR457METN/A
OMIM609245.0001 Diseasep.ARG127TERCHUDLEY-MCCULLOUGH SYNDROME
OMIM609245.0002 Diseasep.GLN562TERCHUDLEY-MCCULLOUGH SYNDROME
OMIM609245.0005 Diseasep.SER554TERCHUDLEY-MCCULLOUGH SYNDROME



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