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Results for the Protein: Q5TBB1
74745929

RNH2B_HUMAN RecName: Full=Ribonuclease H2 subunit B; Short=RNase H2 subunit B; AltName: Full=Aicardi-Goutieres syndrome 2 protein; Short=AGS2; AltName: Full=Deleted in lymphocytic leukemia 8; AltName: Full=Ribonuclease HI subunit B

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 2
  AICARDI-GOUTIERES SYNDROME 2 (AGS2)
9
0
2
0
7
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RNase_H2-Ydr279 - pfam09468


Swiss-Prot Protein: Q5TBB1
Identical to: NP_078846
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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 ↕
Swiss-ProtVAR_027284Diseasep.ALA177THRAicardi-Goutieres syndrome 2 (AGS2)
Swiss-ProtVAR_027281Diseasep.HIS86ARGAicardi-Goutieres syndrome 2 (AGS2)
Swiss-ProtVAR_027280Diseasep.LEU60ARGAicardi-Goutieres syndrome 2 (AGS2)
Swiss-ProtVAR_027282Diseasep.LYS162THRAicardi-Goutieres syndrome 2 (AGS2)
Swiss-ProtVAR_027283Diseasep.THR163ILEAicardi-Goutieres syndrome 2 (AGS2)
Swiss-ProtVAR_027286Diseasep.TYR219HISAicardi-Goutieres syndrome 2 (AGS2)
Swiss-ProtVAR_027285Diseasep.VAL185GLYAicardi-Goutieres syndrome 2 (AGS2)
OMIM610326.0001 Diseasep.ALA177THRAICARDI-GOUTIERES SYNDROME 2
OMIM610326.0002 Diseasep.VAL185GLYAICARDI-GOUTIERES SYNDROME 2



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