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Results for the Protein: Q96DF8
27805463

DGC14_HUMAN RecName: Full=Protein DGCR14; AltName: Full=DiGeorge syndrome critical region 13; AltName: Full=DiGeorge syndrome critical region 14; AltName: Full=DiGeorge syndrome protein H; Short=DGS-H; AltName: Full=Protein ES2
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Default View:

Es2 - pfam09751


Swiss-Prot Protein: Q96DF8
Identical to: NP_073210
   Default View:



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 ↕
Swiss-ProtVAR_015117Polymorphismp.ALA31VALN/A
dbSNPrs712965 Polymorphismp.ALA423VALN/A
dbSNPrs62619780 Polymorphismp.GLU234LYSN/A
dbSNPrs17743887 Polymorphismp.VAL336METN/A



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