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Results for the Protein: P06396
121116
GSN

GELS_HUMAN RecName: Full=Gelsolin; AltName: Full=AGEL; AltName: Full=Actin-depolymerizing factor; Short=ADF; AltName: Full=Brevin; Flags: Precursor

Known Diseases associated with this Protein:
  AMYLOIDOSIS 5 (AMYL5)
  AMYLOIDOSIS, FAMILIAL, FINNISH TYPE
  AMYLOIDOSIS, MERETOJA TYPE
4
8
2
3
7
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Default View:

GEL - smart00262


Swiss-Prot Protein: P06396
Identical to: NP_000168
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GELsmart002621.6e-31188277
GELsmart002624.6e-31302396
GELsmart002628.1e-34448542
GELsmart002629.2e-22566648
GELsmart002623.1e-31671763

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2230287 Polymorphismp.ALA129THRN/A
Swiss-ProtVAR_033958Polymorphismp.ARG668LEUN/A
Swiss-ProtVAR_061982Polymorphismp.ASN231ASPN/A
Swiss-ProtVAR_007718Diseasep.ASP214ASNAmyloidosis 5 (AMYL5)
Swiss-ProtVAR_007719Diseasep.ASP214TYRAmyloidosis 5 (AMYL5)
dbSNPrs115224458 Polymorphismp.LYS61ARGN/A
Swiss-ProtVAR_036339Polymorphismp.SER611ASNN/A
Swiss-ProtVAR_036337Polymorphismp.SER22LEUN/A
Swiss-ProtVAR_036338Polymorphismp.THR201ILEN/A
dbSNPrs76463933 Polymorphismp.THR616METN/A
OMIM137350.0001 Diseasep.ASP187ASNAMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE
OMIM137350.0002 Diseasep.ASP187TYRAMYLOIDOSIS, FAMILIAL, FINNISH TYPE



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