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Results for the Protein: A2RRP1
224471843

NBAS_HUMAN RecName: Full=Neuroblastoma-amplified sequence; AltName: Full=Neuroblastoma-amplified gene protein

Known Diseases associated with this Protein:
  SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
  SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (SOPH)
2
9
1
6
4
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Default View:

Sec39 - pfam08314


Swiss-Prot Protein: A2RRP1
Identical to: NP_056993
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sec39pfam083141.2e-1757251380

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6710817 Polymorphismp.ALA2074THRN/A
dbSNPrs16862653 Polymorphismp.ARG1004GLNN/A
Swiss-ProtVAR_068957Diseasep.ARG1914HISShort stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH)
dbSNPrs74411619 Polymorphismp.CYS1009SERN/A
dbSNPrs34962722 Polymorphismp.CYS1453TRPN/A
Swiss-ProtVAR_068954Polymorphismp.GLN44GLUN/A
dbSNPrs13029846 Polymorphismp.ILE243VALN/A
dbSNPrs4668909 Polymorphismp.LYS655ARGN/A
Swiss-ProtVAR_057614Polymorphismp.SER1178ASNN/A
Swiss-ProtVAR_068955Polymorphismp.VAL949LEUN/A
OMIM608025.0001 Diseasep.ARG1914HISSHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY



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