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Results for the Protein: O75792
20981704

RNH2A_HUMAN RecName: Full=Ribonuclease H2 subunit A; Short=RNase H2 subunit A; AltName: Full=Aicardi-Goutieres syndrome 4 protein; Short=AGS4; AltName: Full=RNase H(35); AltName: Full=Ribonuclease HI large subunit; Short=RNase HI large subunit; AltName: Full=Ribonuclease HI subunit A

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 4
  AICARDI-GOUTIERES SYNDROME 4 (AGS4)
7
2
6
1
2
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Swiss-Prot Protein: O75792
Identical to: NP_006388
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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_027378Polymorphismp.ALA258GLYN/A
Swiss-ProtVAR_027377Diseasep.GLY37SERAicardi-Goutieres syndrome 4 (AGS4)
dbSNPrs7247284 Polymorphismp.LEU202SERN/A
OMIM606034.0002 Diseasep.ARG25ARGAICARDI-GOUTIERES SYNDROME 4
OMIM606034.0003 Diseasep.ARG235GLNAICARDI-GOUTIERES SYNDROME 4
OMIM606034.0005 Diseasep.ARG186TRPAICARDI-GOUTIERES SYNDROME 4
OMIM606034.0006 Diseasep.ASN212ILEAICARDI-GOUTIERES SYNDROME 4
OMIM606034.0001 Diseasep.GLY37SERAICARDI-GOUTIERES SYNDROME 4
OMIM606034.0004 Diseasep.VAL23VALAICARDI-GOUTIERES SYNDROME 4



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