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Results for the Protein: Q5SZK8
73620903

FREM2_HUMAN RecName: Full=FRAS1-related extracellular matrix protein 2; AltName: Full=ECM3 homolog; Flags: Precursor

Known Diseases associated with this Protein:
  FRASER SYNDROME
  FRASER SYNDROME (FRASS)
3
17
2
14
4
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Default View:

Calx_beta - smart00237
Calx-beta - pfam03160


Swiss-Prot Protein: Q5SZK8
Identical to: NP_997244
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Calx-betapfam031602.3e-1017681858
Calx-betapfam031603.8e-1018811982
Calx-betapfam031608.4e-1020072103
Calx-betapfam031600.0001321272220
Calx-betapfam031601.1e-1422482342
Calx_betasmart002372.6e-0817681858
Calx_betasmart002373.8e-0918811982
Calx_betasmart002378.1e-0820072103
Calx_betasmart002370.0002221272220
Calx_betasmart002372.1e-1122482342

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7996253 Polymorphismp.ALA2962VALN/A
Swiss-ProtVAR_023202Polymorphismp.ARG2066CYSN/A
dbSNPrs9548505 Polymorphismp.ARG2066GLYN/A
dbSNPrs1868463 Polymorphismp.ARG1668HISN/A
dbSNPrs77886481 Polymorphismp.ARG1639LYSN/A
dbSNPrs58363253 Polymorphismp.ARG722LYSN/A
dbSNPrs9603422 Polymorphismp.ARG1840TRPN/A
dbSNPrs61997174 Polymorphismp.GLN396HISN/A
Swiss-ProtVAR_023201Diseasep.GLU1972LYSFraser syndrome (FRASS)
Swiss-ProtVAR_037569Polymorphismp.ILE1045SERN/A
dbSNPrs7329939 Polymorphismp.LEU868VALN/A
dbSNPrs2496424 Polymorphismp.MET1039LYSN/A
dbSNPrs2496425 Polymorphismp.PHE1070SERN/A
Swiss-ProtVAR_061175Polymorphismp.SER745PRON/A
dbSNPrs9548509 Polymorphismp.THR2326ILEN/A
dbSNPrs74781600 Polymorphismp.THR1634METN/A
dbSNPrs9548506 Polymorphismp.THR2153SERN/A
dbSNPrs7327915 Polymorphismp.VAL770METN/A
OMIM608945.0003 Diseasep.GLU1972LYSFRASER SYNDROME
OMIM608945.0001 Diseasep.GLU1974LYSFRASER SYNDROME



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