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Results for the Protein: NP_056153
29570782

putative Polycomb group protein ASXL1 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  BOHRING-OPITZ SYNDROME
3
3
3
3
0
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RefSeq Protein: NP_056153
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6057581 Polymorphismp.LEU1325PHEN/A
dbSNPrs35632616 Polymorphismp.LYS838ARGN/A
dbSNPrs6058693 Polymorphismp.VAL751ILEN/A
OMIM612990.0002 Diseasep.ARG404TERBOHRING-OPITZ SYNDROME
OMIM612990.0001 Diseasep.GLN925TERBOHRING-OPITZ SYNDROME
OMIM612990.0003 Diseasep.SER1028TERBOHRING-OPITZ SYNDROME



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