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Results for the Protein: Q9Y6D5
146329988

BIG2_HUMAN RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Short=Brefeldin A-inhibited GEP 2; AltName: Full=ADP-ribosylation factor guanine nucleotide-exchange factor 2

Known Diseases associated with this Protein:
  PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
  PERIVENTRICULAR NODULAR HETEROTOPIA 2 (PVNH2)
2
3
1
0
4
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Default View:

COG5307 - COG5307
Sec7 - pfam01369
Sec7 - smart00222
Sec7 - cd00171
DUF1981 - pfam09324


Swiss-Prot Protein: Q9Y6D5
Identical to: NP_006411
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5307COG53071.2e-1423781480
Sec7pfam013691e-98640827
Sec7smart002229.6e-98642827
DUF1981pfam093241.6e-4311661251

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_028750Polymorphismp.ALA527VALN/A
Swiss-ProtVAR_069404Polymorphismp.ARG802GLNN/A
Swiss-ProtVAR_037438Diseasep.GLU209LYSPeriventricular nodular heterotopia 2 (PVNH2)
Swiss-ProtVAR_036156Polymorphismp.LYS794GLUN/A
OMIM605371.0001 Diseasep.GLU209LYSPERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE



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